Ontology highlight
ABSTRACT:
SUBMITTER: Liu Y
PROVIDER: S-EPMC4602186 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Scientific reports 20151013
Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnically matched chromosomes and 1400 in-house exome dataset, and was located in the first of the two highly ...[more]