A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.
Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria 3052, Australia.
F
F
Takakubo
D R
DR
Thorburn
R M
RM
Brown
G K
GK
Brown
H H
HH
Dahl
D005260:Female; D006801:Humans; D007223:Infant; D009154:Mutation; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics*; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease / Q000235:genetics*
D011768:Pyruvate Dehydrogenase Complex