title: Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Tokushima, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Naito
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: I
authors.initials: I
authors.lastname: Yokota
authors.forename: J
authors.initials: J
authors.lastname: Matsuda
authors.forename: A
authors.initials: A
authors.lastname: Yara
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroda
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D016384:Consensus Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*
chemical_list: D011768:Pyruvate Dehydrogenase Complex