Condition: Pyruvate Dehydrogenase Complex Deficiency Disease
rs1555935486
in
MAP3K15;PDHA1
gene and
Pyruvate Dehydrogenase Complex Deficiency Disease
PMID 21914562
2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.