A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.

A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.

The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in...

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Bibliographic Details
Main Authors: Tiecheng Liu, Xin Jin, Xuemin Zhang, Huijun Yuan, Jing Cheng, Janet Lee, Baoquan Zhang, Maonian Zhang, Jing Wu, Lijuan Wang, Geng Tian, Weifeng Wang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3446876?pdf=render

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http://europepmc.org/articles/PMC3446876?pdf=render

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