Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
Hansen
L L
LL
Institute of Human Genetics, University of Aarhus, Denmark.
Horn
N
N
Dahl
H H
HH
Kruse
T A
TA
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
D017931:DNA Primers; D046911:Macromolecular Substances; D011768:Pyruvate Dehydrogenase Complex; D004250:DNA Topoisomerases, Type II