A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).
Takakubo
F
F
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Victoria, Australia.
Thorburn
D R
DR
Dahl
H H
HH
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
D011768:Pyruvate Dehydrogenase Complex; D011392:Proline; D000409:Alanine