Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
- Cited forNUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN PDHXD
- TissueLiver
- CategoriesSequences, Disease & Variants
- SourceUniProtKB reviewed (Swiss-Prot)