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

Pubmed ID: 
27759031
Year: 
2016
Month: 
Jan
Volume: 
25
Issue: 
1
Citation: 
Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease. European journal of human genetics : EJHG 25 (1) : 79 - 84(2016) PubMed (Grant IDs: 1022896)