title: [Molecular basis of citrin deficiency].
authors.affiliation: Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
mesh_terms: D001224:Aspartic Acid / Q000378:metabolism; D002118:Calcium / Q000378:metabolism; D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000502:physiology; D002780:Cholestasis, Intrahepatic / Q000209:etiology; D002874:Chromosome Mapping / Q000379:methods; D020159:Citrullinemia / Q000145:classification / Q000235:genetics / Q000503:physiopathology; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008298:Maleates / Q000378:metabolism; D026901:Membrane Transport Proteins / Q000235:genetics; D008928:Mitochondria / Q000378:metabolism; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D009243:NAD / Q000378:metabolism; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000502:physiology
chemical_list: D002135:Calcium-Binding Proteins; D008298:Maleates; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; D009243:NAD; C008822:citrin; D001224:Aspartic Acid; C030272:maleic acid; D002118:Calcium