title: A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).
authors.affiliation: Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: F
authors.initials: F
authors.lastname: Takakubo
authors.forename: D R
authors.initials: DR
authors.lastname: Thorburn
authors.forename: H H
authors.initials: HH
authors.lastname: Dahl
mesh_terms: D000409:Alanine; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D017124:Conserved Sequence; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011392:Proline; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011768:Pyruvate Dehydrogenase Complex; D011392:Proline; D000409:Alanine