Article
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Eye (London, England) - 1 Oct 2013
Zhang X, Lai T Y Y, Chiang S W Y, Tam P O S, Liu D T L, Chan C K M, Pang C P, Zhao C, Chen L J
Abstract excerpt
PURPOSE: Mutations in the SNRNP200 gene have been reported to cause autosomal dominant retinitis pigmentosa (adRP). In this study, we evaluate the mutation profile of SNRNP200 in a cohort of southern Chinese RP patients. METHODS: Twenty adRP patients from 11 families and 165 index patients with non-syndromic RP with mixed inheritance patterns were screened for mutations in the mutation hotspots of SNRNP200. These...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.