title: A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.
authors.affiliation: Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, 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: Tada
authors.forename: K
authors.initials: K
authors.lastname: Narisawa
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000737:chemistry* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D016133:Polymerase Chain Reaction; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D014960:X Chromosome
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D004247:DNA