Publications

This page lists publications for all FinDis diseases.
For disease-specific listings, click the disease name on the Diseases page.

Publications last updated: 2012-2-01
Disease Gene Publication title Journal Year Pubmed
AGU AGA Syvänen et al. Convenient and quantitative determination of the fr... Genomics. 1992 1559710
AGU AGA Laitinen et al. Two novel mutations in a Canadian family with asp... Clin Genet. 1997 9137882
AGU AGA Yoshida et al. Two Japanese cases with aspartylglycosaminuria: c... Clin Genet. 1991 1756604
AGU AGA Coulter-Mackie et al. A novel exonic mutation in the aspartylg... J Inherit Metab Dis. 1999 10399108
AGU AGA Fisher et al. Single base deletion in exon 7 of the gl... J Inherit Metab Dis. 1996 8830180
AGU AGA Ikonen et al. Spectrum of mutations in aspartylgl... Proc Natl Acad Sci U S A. 1991 1722323
AGU AGA Park et al. Characterization of three alleles causing aspartyl... Biochem J. 1993 8457202
AGU AGA Isoniemi et al. Identification of a novel mutation causing asparty... Hum Mutat. 1995 7627186
AGU AGA Jalanko et al. Deletion of the C-terminal end of aspartylgluc... Hum Mol Genet. 1995 7795599
AGU AGA Park et al. Single base deletion in exon 7 of the gl... J Inherit Metab Dis. 1996 8830180
AGU AGA Peltola et al. Characterization of a point mutation in aspart... Hum Mol Genet. 1994 7881426
AGU AGA Peltola et al. Ser72Pro active-site disease mutation in human... Hum Mol Genet. 1996 8776587
AGU AGA Saarela et al. Molecular pathogenesis of a disease: structura... Hum Mol Genet. 2001 11309371
AGU AGA Saarela et al. A novel aspartylglucosaminuria mutation affects tr... Hum Mutat. 2004 15365992
AGU AGA Ikonen et al. Aspartylglucosaminuria: cDNA encoding human aspartylg... EMBO J. 1991 1703489
APS1 AIRE Positional cloning of the APECED gene. Nat Genet. 1997 9398839
APS1 AIRE An autoimmune disease, APECED, caused by mutations... Nat Genet. 1997 9398840
APS1 AIRE Common mutations in autoimmune polyendocrinop... Mol Endocrinol. 1998 9717837
APS1 AIRE 9837820
APS1 AIRE A common and recurrent 13-bp deletion in the ... Am J Hum Genet. 1998 9837820
APS1 AIRE Mutation analyses of North American APS-1 patients. Hum Mutat. 1999 9888391
APS1 AIRE Characterization of mutations in patients with aut... Hum Genet. 1998 9921903
APS1 AIRE Severe autoimmune polyendocrinopathy... J Clin Endocrinol Metab. 1999 10084559
APS1 AIRE Mutations in the AIRE gene: effects on subcel... Am J Hum Genet. 2000 10677297
APS1 AIRE Novel mutations of the autoimmune re... J Clin Endocrinol Metab. 2000 10946904
APS1 AIRE Identification of a novel mutation in the a... Eur J Endocrinol. 2001 11275943
APS1 AIRE Autoimmune regulator AIRE: evidence for genetic d... Hepatology. 2001 11343230
APS1 AIRE Novel AIRE mutations and P450 cytochrome autoantib... Hum Mutat. 2001 11524733
APS1 AIRE A novel mutation of the autoimmune r... J Clin Endocrinol Metab. 2001 11600535
APS1 AIRE Delineation of the molecular defects... J Clin Endocrinol Metab. 2002 11836330
APS1 AIRE Distinct clinical phenotype and immunoreactivit... Clin Immunol. 2002 12173302
APS1 AIRE A novel missense mutation of AIRE gene in a patient... Endocr J. 2002 12625412
APS1 AIRE A novel AIRE mutation in an APE... Exp Clin Endocrinol Diabetes. 2003 12784192
APS1 AIRE Reversible metaphyseal dysplasia, a ... J Clin Endocrinol Metab. 2003 14557425
APS1 AIRE Novel compound heterozygous AIRE ... J Pediatr Endocrinol Metab. 2004 15270412
APS1 AIRE Two novel mutations of the AIRE protein affecting ... Hum Mutat. 2005 15712268
APS1 AIRE Autoimmune regulator-1 messenger rib... J Clin Endocrinol Metab. 2005 15886230
APS1 AIRE Molecular background of polyendocrinopathy-candid... Clin Genet. 2006 16965330
APS1 AIRE Autoimmune polyendocrine syndrome ty... J Clin Endocrinol Metab. 2007 17118990
APS1 AIRE An 8-year-old boy with autoimmune hepatitis an... Eur J Pediatr. 2008 17891543
APS1 AIRE AIRE variations in Addison's disease and autoimm... Genes Immun. 2008 18200029
APS1 AIRE Sicilian family with autoimmune polyendocrinop... Eur J Pediatr. 2008 18274776
APS1 AIRE Evaluation of the autoimmune regulator... Clin Endocrinol (Oxf). 2009 18616706
APS1 AIRE Detection of a complete autoimmune regulato... Eur J Endocrinol. 2008 18682433
APS1 AIRE Novel homozygous AIRE mutation in... J Pediatr Endocrinol Metab. 2008 19209622
APS1 AIRE AIRE gene analysis in children ... J Pediatr Gastroenterol Nutr. 2009 19322061
APS1 AIRE Novel and recurrent mutations in the AIRE gene of... Clin Genet. 2009 19758376
APS1 AIRE Two novel AIRE mutations in autoimmune polyendocr... Clin Genet. 2009 19807739
APS1 AIRE Liu C. et al. Autoimmune regulator ge... Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010 20140861
APS1 AIRE Autoantibodies against aromatic L-am... J Clin Endocrinol Metab. 2000 10634424
APS1 AIRE A common mutation in Sardinian autoimmune polyendo... Hum Genet. 1998 9856486
APS1 AIRE Autoimmune polyendocrinopathy-candidiasis-ectoderma... Horm Res. 2005 16166780
CHH RMRP Bacchetta et al. Autoimmune hypoparathyroidism in a 12-year-o... Pediatr Nephrol. 2009 19626344
CHH RMRP Bonafe et al. RMRP gene sequence analysis confirms a cartilage-... Clin Genet. 2002 11940090
CHH RMRP Bonafe et al. Evolutionary comparison provides evidence for pat... PLoS Genet. 2005 16244706
CHH RMRP Hermanns et al. RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A. 2006 16838329
CHH RMRP Kavadas et al. Variability of clinical and laborator... J Allergy Clin Immunol. 2008 18804272
CHH RMRP Fuente et al. Reduced thymic output, cell cycle abn... J Allergy Clin Immunol. 2011 21570718
CHH RMRP Harada et al. An effective case of growth hormone treatment on cartil... Bone. 2005 15780958
CHH RMRP Munoz-Robles et al. A novel RMRP mutation in a Spanish patient wit... Immunobiology. 2006 17015150
CHH RMRP Thiel et al. Type and level of RMRP functional impairment ... Am J Hum Genet. 2007 17701897
CHH RMRP Hirose et al. Identification of novel RMRP mutations and speci... J Hum Genet. 2006 16832578
CHH RMRP Horn et al. Fatal adult-onset antibody deficiency syndrome i... Hum Immunol. 2010 20538026
CHH RMRP Kuijpers et al. Short-limbed dwarfism with bowing, combined immu... J Med Genet. 2003 14569125
CHH RMRP Kwan et al. Marked variability in the radiographic feat... Am J Med Genet A. 2012 22987807
CHH RMRP Nakashima et al. RMRP mutations in Japanese patients with ca... Am J Med Genet A. 2003 14608646
CHH RMRP Ridanpää et al. Mutations in the RNA component of RNase MRP cause a ple... Cell. 2001 11207361
CHH RMRP Ridanpää et al. Worldwide mutation spectrum in cartilage-hai... Eur J Hum Genet. 2002 12107819
CHH RMRP Roifman et al. Mutations in the RNA component of RNa... J Allergy Clin Immunol. 2006 16630949
CHH RMRP Munoz-Robles et al. A novel RMRP mutation in a Spanish patient wit... Immunobiology. 2006 17015150
CHH RMRP Kavadas et al. Variability of clinical and laborator... J Allergy Clin Immunol. 2008 18804272
CHH RMRP Vatanavicharn et al. An infant with cartilage-hair hypoplasia due to... J Appl Genet. 2010 21063072
CHM CHM Missense mutation in the choroideremia gene. Hum Mol Genet. 1994 7951216
CHM CHM Cloning and characterization of the human chor... Hum Mol Genet. 1994 7981670
CHM CHM Mutation spectrum in the CHM gene of Danish an... Hum Mol Genet. 1994 7981671
CHM CHM Dinucleotide repeat polymorphism within the ch... Hum Mol Genet. 1994 7987344
CHM CHM A novel mutation (S558X) causing choroideremia. Hum Mutat. 1996 8956058
CHM CHM A hemizygous A to CC base c... Graefes Arch Clin Exp Ophthalmol. 1997 9349950
CHM CHM Altered rep-1 expression due to substitution at... Curr Eye Res. 1998 9678418
CHM CHM REP-1 gene mutations in Jap... Graefes Arch Clin Exp Ophthalmol. 1999 10447648
CHM CHM Molecular genetics of pigmentary retinopathi... [J Fr Ophtalmol. 2000 11139690
CHM CHM Mutational analysis of patients with the diagnosis... Hum Mutat. 2002 12203991
CHM CHM Novel types of mutation in the choroideremia ( CHM... Hum Genet. 2003 12827496
CHM CHM Clinical findings in a carrier of a new mutati... Ophthalmology. 2004 15465555
CHM CHM Clinical features of Japanese families with a 402delT... Retina. 2004 15579993
CHM CHM Clinical and functional findings in choroide... Arch Ophthalmol. 2007 17698759
CHM CHM Novel truncating mutations of the CHM gene in Chines... Mol Vis. 2007 18087237
CHM CHM New type of mutations in three spa... Invest Ophthalmol Vis Sci. 2008 18385043
CHM CHM First mutation (S340X) in choroideremia gene in a ... Hum Mutat. 1998 10651486
CHM CHM New approach for the refinement of the loca... Am J Med Genet A. 2005 16222660
CHM CHM A carboxy-terminal truncation of 99 amino acids ... Exp Eye Res. 1997 9196401
CHM CHM Lin et al. Molecular analysis of the choroideremia gene related... Mol Vis. 2011 22025891
CHM CHM Zhou et al. Genetic and phenotypic characteristics of three Main... Mol Vis. 2012 22355242
CHM CHM Huang et al. Clinical characteristics of a large choroide... Arch Ophthalmol. 2012 22965595
CHM CHM Sankila Aberrant splicing of the CHM gene is a significant... Nat Genet. 1992 1302003
CHM CHM van den Hurk Detection and characterization of point mutat... Am J Hum Genet. 1992 1598901
CHM CHM Iino Y, et al. A novel mutation (967-970+2)delAAAG... Jpn J Ophthalmol. 2008 18773267
CHM CHM Renner Progression of retinal pigment epithelial al... Arch Ophthalmol. 2009 19597113
CHM CHM Perez-Cano, et al. CHM gene molecular analysis and X-chromosom... Am J Med Genet A. 2009 19764077
CHM CHM Stunnikova Loss-of-function mutations in Rab escort protein 1 ... PLoS One. 2009 20027300
CHM CHM Rush Identification of an X-linked deletion ... Semin Pediatr Neurol. 2010 20434696
CHM CHM Esposito Comprehensive mutation analysis (20 families) of t... Hum Mutat. 2011 21905166
CHM CHM Van Bokhoven, et al. Mutation spectrum in the CHM gene of Danish an... Hum Mol Genet. 1994 7981671
CHM CHM van den Hurk Molecular basis of choroideremia (CHM): mutations ... Hum Mutat. 1997 9067750
CLD SLC26A3Choi et al. Genetic diagnosis by whole exome ca... Proc Natl Acad Sci U S A. 2009 19861545
CLD SLC26A3 Choi et al. Genetic diagnosis by whole exome ca... Proc Natl Acad Sci U S A. 2009 19861545
CLD SLC26A3 Wedenoja et al. Update on SLC26A3 mutations in congenital chloride... Hum Mutat. 2011 21394828
CLD SLC26A3 Heinz-Erian et al. A novel homozygous SLC26A3 nons... J Pediatr Gastroenterol Nutr. 2008 18728535
CLD SLC26A3 Höglund et al. Mutations of the Down-regulated in adenoma (DRA) g... Nat Genet. 1996 8896562
CLD SLC26A3 Makela et al. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2002 12442266
CLD SLC26A3 Höglund et al. Clustering of private mutations in the congenital ... Hum Mutat. 1998 9554749
CLD SLC26A3 Höglund et al. Identification of seven novel mutations including ... Hum Mutat. 2001 11524734
CLD SLC26A3 Höglund et al. Genetic background of congenital chloride dia... Am J Hum Genet. 1998 9718329
CLD SLC26A3 Hosnut et al. A Turkish case of congenital chloride d... Turk J Gastroenterol. 2010 21332001
CLD SLC26A3 Höglund et al. Distinct outcomes of chloride diarrhoea in two siblings ... Gut. 2001 11302976
CLD SLC26A3 Lee et al. Identification of SLC26A3 mutations in a Korean ... Ann Lab Med. 2012 22779076
CLD SLC26A3 Herrera et al. Compound heterozygous mutations... J Pediatr Gastroenterol Nutr. 2011 21150650
CLN1 PPT1 Kousi et al. Update of the mutation spectrum and clinical corre... Hum Mutat. 2012 21990111
CLN1 PPT1 Simonati et al. Variant late infantile neuronal ceroid lipofu... Pediatr Neurol. 2009 19302939
CLN1 PPT1 Vesa et al. Mutations in the palmitoyl protein thioesterase gene ... Nature. 1995 7637805
CLN3 CLN3 Kousi et al. Update of the mutation spectrum and clinical corre... Hum Mutat. 2012 21990111
CLN3 CLN3 Kitzmuller et al. A function retained by the common mutant CLN3 ... Hum Mol Genet. 2008 17947292
CLN3 CLN3 Lauronen et al. Delayed classic and protracted phenotypes of compo... Neurology. 1999 9932957
CLN5 CLN5 Savukoski et al. CLN5, a novel gene encoding a putative transmembra... Nat Genet. 1998 9662406
CLN5 CLN5 Kousi et al. Update of the mutation spectrum and clinical corre... Hum Mutat. 2012 21990111
CLN5 CLN5 Staropoli et al. Neuronal ceroid lipofuscinosis in Qatar: repo... J Child Neurol. 2011 21447811
CLN5 CLN5 Xin et al. CLN5 mutations are frequent in juvenile and late-o... Neurology. 2010 20157158
CNA2 KERA Khan et al. A novel KERA mutation associated with autos... Ophthalmic Genet. 2004 15370545
CNA2 KERA Khan et al. Recessive cornea plana in the Kingdom of Saudi... Ophthalmology. 2006 17011957
CNA2 KERA Khan et al. Pellucid marginal degeneration coexistent wi... Br J Ophthalmol. 2005 16234475
CNA2 KERA Lehmann et al. A novel keratocan mutation causing... Invest Ophthalmol Vis Sci. 2001 11726611
CNA2 KERA Pellegata et al. Mutations in KERA, encoding keratocan, cause corne... Nat Genet. 2000 10802664
CNA2 KERA Liskova et al. Study of p.N247S KERA mutation in a British family w... Mol Vis. 2007 17679937
NPHS1 NPHS1 Aya et al. Novel mutation in the nephrin gene of a Japanese ... Kidney Int. 2000 10652016
NPHS1 NPHS1 Beltcheva et al. Mutation spectrum in the nephrin gene (NPHS1) in c... Hum Mutat. 2001 11317351
NPHS1 NPHS1 Aya et al. NPHS1 gene mutation in Japanese pati... Nephrol Dial Transplant. 2009 19321760
NPHS1 NPHS1 Philippe et al. Nephrin mutations can cause childhood-onset... J Am Soc Nephrol. 2008 18614772
NPHS1 NPHS1 Sako et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japan... Kidney Int. 2005 15780077
NPHS1 NPHS1 Koziell et al. Genotype/phenotype correlations of NPHS1 and N... Hum Mol Genet. 2002 11854170
NPHS1 NPHS1 Heeringa et al. Thirteen novel NPHS1 mutations in a ... Nephrol Dial Transplant. 2008 18503012
NPHS1 NPHS1 Lee et al. Two Korean infants with genetically confirm... J Korean Med Sci. 2009 19194555
NPHS1 NPHS1 Schoeb et al. Nineteen novel NPHS1 mutations in a ... Nephrol Dial Transplant. 2010 20172850
NPHS1 NPHS1 Bolk et al. Elevated frequency and allelic heterogeneity ... Am J Hum Genet. 1999 10577936
NPHS1 NPHS1 Frishberg et al. Misleading findings of homozygosity mapping result... Genet Med. 2007 17413422
NPHS1 NPHS1 Gigante et al. Congenital nephrotic syndrome of Finnish type: ... Prenat Diagn. 2005 15906409
NPHS1 NPHS1 Kestila et al. Positionally cloned gene for a novel glomerular pro... Mol Cell. 1998 9660941
NPHS1 NPHS1 Lemley et al. Neonatal nephrotic presentation of a child w... Pediatr Nephrol. 2006 16703378
NPHS1 NPHS1 Wu et al. Two novel NPHS1 mutations in a Chinese family ... Genet Mol Res. 2011 22009864
COH1 VPS13B Athanasakis et al. Two Novel COH1 Mutations in an Italian Patient... Mol Syndromol. 2012 22855652
COH1 VPS13B Balikova et al. High frequency of submicroscopic chromosomal... Am J Ophthalmol. 2011 21353197
COH1 VPS13B Bugiani et al. Cohen syndrome resulting from a novel large... Am J Med Genet A. 2008 18655112
COH1 VPS13B Parri et al. High frequency of COH1 intragenic deletions ... Eur J Hum Genet. 2010 20461111
COH1 VPS13B Falk et al. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 15211651
COH1 VPS13B Taban et al. Cohen syndrome: report of nine cases and review of t... J AAPOS. 2007 17383910
COH1 VPS13B Hennies et al. Allelic heterogeneity in the COH1 gene explai... Am J Hum Genet. 2004 15154116
COH1 VPS13B Katzaki et al. Clinical and molecular characterization of Itali... J Hum Genet. 2007 17990063
COH1 VPS13B Seifert et al. Mutational spectrum of COH1 and clinical heterog... J Med Genet. 2006 16648375
COH1 VPS13B Sheifert et al. Expanded mutational spectrum in Cohen syndrome, ti... Hum Mutat. 2009 19006247
COH1 VPS13B Kolehmainen et al. Cohen syndrome is caused by mutations in a no... Am J Hum Genet. 2003 12730828
COH1 VPS13B Kolehmainen et al. Delineation of Cohen syndrome following a lar... Am J Hum Genet. 2004 15141358
COH1 VPS13B Mochida et al. Broader geographical spectrum of Cohen syndrome ... J Med Genet. 2004 15173253
COH1 VPS13B Balikova et al. Deletions in the VPS13B (COH1) gene as a cause of ... Hum Mutat. 2009 19533689
COH1 VPS13B Kondo et al. COH1 analysis and linkage study in two Japanese f... Clin Genet. 2005 15691367
COH1 VPS13B Bonafe et al. A novel mutation in the sulfate transporter gene... J Med Genet. 2008 18708426
DTD SLC26A2 Hästbacka et al. The diastrophic dysplasia gene encodes a novel sulfate ... Cell. 1994 7923357
DTD SLC26A2 Superti-Furga et al. A chondrodysplasia family.. Am J Med Genet. 1996b 8723100
DTD SLC26A2 Superti-Furga et al. A family of chondrodysplasias... Ann N Y Acad Sci. 1996a 8702127
DTD SLC26A2 Barbosa et al. Clinical and molecular characterization of Diastr... Clin Genet. 2011 21155763
DTD SLC26A2 Hästbacka et al. Identification of the Finnish founder mutati... Eur J Hum Genet. 1999 10482955
DTD SLC26A2 Dwyer et al. Genotype-phenotype correlation in DTDST dys... Am J Med Genet A. 2010 21077202
DTD SLC26A2 Megarbane et al. Homozygosity for a novel DTDST mutation in a chil... Clin Genet. 1999 10466420
DTD SLC26A2 Rossi et al. Mutations in the diastrophic dysplasia sulfate tra... Hum Mutat. 2001 11241838
DTD SLC26A2 Cai et al. Mutational analysis of the DTDST gene in a fe... Am J Med Genet. 1998 9637425
EPM1 CSTB Identification of mutations in cystatin B, th... Am J Hum Genet. 1997 9012407
EPM1 CSTB Unstable minisatellite expansion causing recessive... Nat Genet. 1997 9090386
EPM1 CSTB Unverricht-Lundborg disease with cystatin B g... Pediatr Neurol. 2002 11814737
EPM1 CSTB Univerricht-Lundborg disease: underdiagnosed in th... Epilepsia. 2004 15329070
EPM1 CSTB Cystatin B: mutation detection, alternative ... Eur J Hum Genet. 2007 17003839
EPM1 CSTB Unverricht-Lundborg disease: homozygosity for a... Epilepsy Res. 2012 22154554
EPM1 CSTB Mutations in the gene encoding cystatin B in progres... Science. 1996 8596935
EPM1 CSTB Unstable insertion in the 5' flanking region of th... Nat Genet. 1997 9054946
EPM1 CSTB G to C transversion at a splice acceptor site caus... Mutat Res. 1997 9360639
EPMR CLN8Allen et al. Variant late-infantile neuronal ceroid lipofuscin... Clin Genet. 2012 22220808
EPMR CLN8 Ranta et al. The neuronal ceroid lipofuscinoses in human EPMR a... Nat Genet. 1999 10508524
EPMR CLN8 Kousi et al. Update of the mutation spectrum and clinical corre... Hum Mutat. 2012 21990111
EPMR CLN8 Reinhardt et al. Novel CLN8 mutations confirm the clinical and eth... Clin Genet. 2010 19807737
GA OAT Akaki et al. A deletion in the ornithine aminotransferase gen... J Biol Chem. 1992 1618792
GA OAT Brody et al. Ornithine delta-aminotransferase mutations in gy... J Biol Chem. 1992 1737786
GA OAT Mashima et al. Heterogeneity and uniqueness of ornithine amino... Curr Eye Res. 1996 8670789
GA OAT Sergouniotis et al. Retinal structure, function, and molecular pat... Ophthalmology. 2012 22182799
GA OAT Dietz et al. The skipping of constitutive exons in vivo induced b... Science. 1993 8430317
GA OAT Doimo et al. Functional Analysis of Missense Mutations of OAT, ... Hum Mutat. 2013 23076989
GA OAT Inana et al. Point mutation affecting processing of the ornit... J Biol Chem. 1989 2793865
GA OAT Mashima et al. A single-base change at a splice acceptor site in ... Hum Genet. 1992 1487247
GA OAT Kobayashi et al. A single amino acid substitution within the m... Am J Hum Genet. 1995 7668253
GA OAT Mashima et al. Nonsense-codon mutations of the ornithine ami... Am J Hum Genet. 1992 1609808
GA OAT Renner et al. Gyrate atrophy: clinical and genetic findings... Doc Ophthalmol. 2012 22674428
GA OAT McClatchey et al. Splicing defect at the ornithine aminotransfe... Am J Hum Genet. 1990 2220818
GA OAT Michaud et al. Strand-separating conformational polymorphism analy... Genomics. 1992 1612597
GA OAT Michaud et al. Pyridoxine-responsive gyrate atrophy of the c... Am J Hum Genet. 1995 7887415
GA OAT Mitchell et al. At least two mutant alleles of orni... Proc Natl Acad Sci U S A. 1989 2492100
GA OAT Mitchell et al. Splice-mediated insertion of an Alu... Proc Natl Acad Sci U S A. 1991 1992472
GA OAT Ohkubo et al. Vitamin B6-responsive ornithine aminotransf... Tohoku J Exp Med. 2005 15750329
GA OAT Park et al. A 15-bp deletion in exon 5 of the ornithine aminot... Hum Mutat. 1992 1301936
GA OAT Park et al. Three novel mutations of the ornithine aminotransfe... Genomics. 1992 1427882
GA OAT Ramesh et al. Molecular basis of ornithine aminot... Proc Natl Acad Sci U S A. 1988 3375240
GCE AMT Kure et al. A missense mutation (His42Arg) in the T-protein ge... Hum Genet. 1998 9600239
GCE AMT Kure et al. Comprehensive mutation analysis of GLDC, AMT, and ... Hum Mutat. 2006 16450403
GCE AMT Kure et al. A one-base deletion (183delC) and a missense mut... J Hum Genet. 1998 9621520
GCE AMT Nanao et al. Identification of the mutations in the T-protein g... Hum Genet. 1994 8005589
GCE AMT Toone et al. Biochemical and molecular investigations of ... Mol Genet Metab. 2000 10873393
GCE AMT Toone et al. Recurrent mutations in P- and T-proteins of ... Mol Genet Metab. 2001 11286506
GCE AMT Pardal-Fernandez et al. Atypical glycine encephalopathy in an extre... Epileptic Disord. 2009 19299230
GCE AMT Toone et al. Identification of the first reported splice site m... Hum Mutat. 2001 11139253
GCE GCSH Koyata et al. The glycine cleavage system: structure of a c... Am J Hum Genet. 1991 1671321
GCE GCSH Kure et al. Heterozygous GLDC and GCSH gene mutations in tran... Ann Neurol. 2002 12402263
GCE GCSH Boneh et al. A single nucleotide substitution that abolishes ... J Hum Genet. 2005 15864413
GCE GLDC Chang et al. Non-ketotic hyperglycinemia wit... Acta Paediatr Taiwan. 2008 18581728
GCE GLDC Brunel-Guitton et al. Late-onset nonketotic hyperglycinemia caused... Mol Genet Metab. 2011 21411353
GCE GLDC Conter et al. Genetic heterogeneity of the GLDC gene i... J Inherit Metab Dis. 2006 16601880
GCE GLDC Dinopoulos et al. Glycine decarboxylase mutations: a distinctive phe... Neurology. 2005 15824356
GCE GLDC Flusser et al. Mild glycine encephalopathy (NKH) in a large kindr... Neurology. 2005 15851735
GCE GLDC Kanno et al. Genomic deletion within GLDC is a major cause of... J Med Genet. 2007 17361008
GCE GLDC Korman et al. Persistent NKH with transient or absent symptoms ... Ann Neurol. 2004 15236413
GCE GLDC Korman et al. Treatment from birth of nonketotic hyperglycinemi... Ann Neurol. 2006 16404748
GCE GLDC Kure et al. Structural and expression analyse... Biochem Biophys Res Commun. 1991 1996985
GCE GLDC Kure et al. Identification of a common mutation in Finnish... J Clin Invest. 1992 1634607
GCE GLDC Kure et al. Heterozygous GLDC and GCSH gene mutations in tran... Ann Neurol. 2002 12402263
GCE GLDC Kure et al. Comprehensive mutation analysis of GLDC, AMT, and ... Hum Mutat. 2006 16450403
GCE GLDC Kure et al. Mild variant of nonketotic hyperglycinemia with ty... J Pediatr. 2004 15192636
GCE GLDC Meyer et al. A novel missense mutation in a neonate with n... Pediatr Neurol. 2010 20933183
GCE GLDC Sellner et al. Detection of mutations in the glycine decarb... Mol Genet Metab. 2005 15670722
GCE GLDC Takayanagi et al. Human glycine decarboxylase gene (GLDC) and its hi... Hum Genet. 2000 10798358
GCE GLDC Toone et al. Biochemical and molecular investigations of ... Mol Genet Metab. 2000 10873393
GCE GLDC Toone et al. Recurrent mutations in P- and T-proteins of ... Mol Genet Metab. 2001 11286506
GCE GLDC Toone et al. Novel mutations in the P-protein (glycine de... Mol Genet Metab. 2002 12126939
GCE GLDC Kure et al. A comprehensive mutation analysis of GLDC, AMT and GCSH in glycine encephalopathy J Inherit Metab Dis 26(Supplement 2): 132-O. 2004 15192636
GCE GLDC Genetic heterogeneity of the GLDC gene i... J Inherit Metab Dis. 2006 16601880
GCE Kure et al. Comprehensive mutation analysis of GLDC, AMT, and ... Hum Mutat. 2006 16450403
GRACILE BCS1L Visapää et al. GRACILE syndrome, a lethal metabolic disorder... Am J Hum Genet. 2002 12215968
GRACILE BCS1L Fellman et al. Screening of BCS1L mutations in severe neonatal ... J Hum Genet. 2008 18386115
HLS HYLS1 Mee et al. Hydrolethalus syndrome is caused by a missense... Hum Mol Genet. 2005 15843405
IOSCA C10orf2 Dündar et al. Identification of a novel Twinkle mutation in... Pediatr Neurol. 2012 22353293
IOSCA C10orf2 Hartley et al. Novel Autosomal Recessive c10orf2 Mutations... Case Rep Pediatr. 2012 22928142
IOSCA C10orf2 Nikali et al. Infantile onset spinocerebellar ataxia is caus... Hum Mol Genet. 2005 16135556
GRACILE BCS1L Visapää et al. GRACILE syndrome, a lethal metabolic disorder... Am J Hum Genet. 2002 12215968
LAAHD GLE1 Nousiainen et al. Mutations in mRNA export mediator GLE1 result in a... Nat Genet. 2008 18204449
LCCS GLE1 Nousiainen et al. Mutations in mRNA export mediator GLE1 result in a... Nat Genet. 2008 18204449
LCCS, LAAHD GLE1 Nousiainen et al. Mutations in mRNA export mediator GLE1 result in a... Nat Genet. 2008 18204449
Lactase deficiency, congenital LCT Kuokkanen et al. Mutations in the translated region of the lac... Am J Hum Genet. 2006 16400612
Lactase deficiency, congenital LCT Torniainen et al. Four novel mutations in the lactase gene (... BMC Gastroenterol. 2009 19161632
Lactase deficiency, congenital LCT Uchida et al. Two novel mutations in the lactase gene in ... Tohoku J Exp Med. 2012 22688420
LPI SLC7A7 Torrens et al. Identification of SLC7A7, encoding y+LAT-1, as the... Nat Genet. 1999 10080182
LPI SLC7A7 Font-Llitjos et al. Novel SLC7A7 large rearrangements in lysinur... Eur J Hum Genet. 2009 18716612
LPI SLC7A7 Mykkanen et al. Functional analysis of novel mutations in y(+)... Hum Mol Genet. 2000 10655553
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