Condition: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13


rs146571352 in PNPT1 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 27759031 2016 Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

PMID 23084291 2012 Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.