Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

X-linked Retinitis Pigmentosa (XLRP) accounts for 10-20% of all RP cases, and represents the most severe subtype of this disease. Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) gene are the most common causes of XLRP, accounting for over 70-75% of all XLRP cases. In this work, we anal...

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Bibliographic Details
Main Authors: Liping Yang, Xiaobei Yin, Lina Feng, Debo You, Lemeng Wu, Ningning Chen, Aijun Li, Genlin Li, Zhizhong Ma
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3893273?pdf=render