Condition: COENZYME Q10 DEFICIENCY, PRIMARY, 2


rs1057519353 in PDSS1 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 2 PMID 22494076 2012 Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

rs1057519354 in PDSS1;ABI1 gene and COENZYME Q10 DEFICIENCY, PRIMARY, 2 PMID 22494076 2012 Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.