Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. (2020)
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1073/pnas.2002328117
PubMed Identifier: 32554502
Publication URI: http://europepmc.org/abstract/MED/32554502
Type: Journal Article/Review
Volume: 117
Parent Publication: Proceedings of the National Academy of Sciences of the United States of America
Issue: 26
ISSN: 0027-8424