Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. (2014)
Attributed to:
Nudc as a new molecular target to investigate the pathogenesis and treatment of skeletal ciliopathies.
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1038/ng.2829
PubMed Identifier: 24241535
Publication URI: http://europepmc.org/abstract/MED/24241535
Type: Journal Article/Review
Volume: 46
Parent Publication: Nature genetics
Issue: 1
ISSN: 1061-4036