title: Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.
authors.affiliation: Department of Biochemistry, Jichi Medical School, Tochigi, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Endo
authors.forename: S
authors.initials: S
authors.lastname: Miyabayashi
authors.forename: K
authors.initials: K
authors.lastname: Hasegawa
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
authors.forename: K
authors.initials: K
authors.lastname: Tada
authors.forename: Y
authors.initials: Y
authors.lastname: Kagawa
authors.forename: S
authors.initials: S
authors.lastname: Ohta
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics*
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D004247:DNA