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Article

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

PloS one - 1 Jan 2014

Yang Liping, Yin Xiaobei, Feng Lina, You Debo, Wu Lemeng, Chen Ningning, Li Aijun, Li Genlin, Ma Zhizhong

Abstract excerpt

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 analyzed all the exons of RPGR gene with Sanger sequencing in seven Chinese XLRP families, two of these with a...

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Source

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Identifiers

PMID: 24454928
DOI: 10.1371/journal.pone.0085752
PMCID: PMC3893273

Genes

RPGR

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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