Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.
Hansen
L L
LL
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Victoria, Australia.
Brown
G K
GK
Brown
R M
RM
Dahl
H H
HH
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*
D004247:DNA