title: Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark.
authors.forename: L L
authors.initials: LL
authors.lastname: Hansen
authors.forename: N
authors.initials: N
authors.lastname: Horn
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
authors.forename: T A
authors.initials: TA
authors.lastname: Kruse
mesh_terms: D000595:Amino Acid Sequence; D001482:Base Composition; D001483:Base Sequence; D002478:Cells, Cultured; D002675:Child, Preschool; D016384:Consensus Sequence; D017931:DNA Primers; D004250:DNA Topoisomerases, Type II / Q000235:genetics; D005091:Exons; D005260:Female; D006801:Humans; D046911:Macromolecular Substances; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000201:enzymology / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D017931:DNA Primers; D046911:Macromolecular Substances; D011768:Pyruvate Dehydrogenase Complex; D004250:DNA Topoisomerases, Type II