title: Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency.
authors.affiliation: Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
authors.forename: J J
authors.initials: JJ
authors.lastname: Higgins
authors.forename: S E
authors.initials: SE
authors.lastname: Ide
authors.forename: J S
authors.initials: JS
authors.lastname: Oghalai
authors.forename: M H
authors.initials: MH
authors.lastname: Polymeropoulos
mesh_terms: D001665:Binding Sites; D001710:Biotin / Q000378:metabolism*; D002648:Child; D005260:Female; D006801:Humans; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011485:Protein Binding / Q000235:genetics; D011766:Pyruvate Carboxylase / Q000097:blood / Q000235:genetics* / Q000378:metabolism*; D015324:Pyruvate Carboxylase Deficiency Disease / Q000201:enzymology / Q000235:genetics*; D012129:Respiratory Function Tests
chemical_list: D019344:Lactic Acid; D001710:Biotin; D011766:Pyruvate Carboxylase