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

Crossref DOI link: https://doi.org/10.1038/ejhg.2016.128

Published Online: 2016-10-19

Published Print: 2017-01

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Alodaib, Ahmad

Sobreira, Nara

Gold, Wendy A

Riley, Lisa G

Van Bergen, Nicole J

Wilson, Meredith J

Bennetts, Bruce

Thorburn, David R

Boehm, Corinne

Christodoulou, John
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Article History

Received: 22 December 2015

Revised: 10 August 2016

Accepted: 23 August 2016

First Online: 19 October 2016

Competing interests

: The authors declare no conflict of interest.