title: Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.
authors.affiliation: Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: L L
authors.initials: LL
authors.lastname: Hansen
authors.forename: G K
authors.initials: GK
authors.lastname: Brown
authors.forename: R M
authors.initials: RM
authors.lastname: Brown
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
mesh_terms: D001483:Base Sequence; D002478:Cells, Cultured; D004247:DNA / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*
chemical_list: D004247:DNA