Ontology highlight
ABSTRACT:
SUBMITTER: Jin ZB
PROVIDER: S-EPMC3974215 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Nature communications 20140327
Retinitis pigmentosa (RP) is characterized by degeneration of the retinal photoreceptors and is the leading cause of inherited blindness worldwide. Although few genes are known to cause autosomal recessive RP (arRP), a large proportion of disease-causing genes remain to be revealed. Here we report the identification of SLC7A14, a potential cationic transporter, as a novel gene linked to arRP. Using exome sequencing and direct screening of 248 unrelated patients with arRP, we find that mutations ...[more]