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)
Pubmed Link:
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=27759031&dopt=Abstract