Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females. (2018)

First Author: Fiorentino A
Attributed to:  Understanding the mechanisms of cone opsin mediated disease to develop new therapies funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1002/humu.23349

PubMed Identifier: 28967191

Publication URI: http://europepmc.org/abstract/MED/28967191

Type: Journal Article/Review

Volume: 39

Parent Publication: Human mutation

Issue: 1

ISSN: 1059-7794