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Article

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.

Eye (London, England) - 1 Jun 2021

Wang Yun, Lu Lan, Zhang Daren, Tan Yueqiu, Li Danli, He Fen, Jiao Xiaodong, Yang Ming, Hejtmancik J Fielding, Liu Xuyang

Abstract excerpt

OBJECTIVES: The objective of this study is to investigate the molecular mechanisms and genotype-phenotype correlations of a Chinese family with X-linked retinitis pigmentosa (XLRP). METHODS: A four-generation family with a total of 41 individuals including 7 affected males was recruited. All subjects in this pedigree underwent a complete ophthalmic examination. Targeted capture and next-generation sequencing were...

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Identifiers

PMID: 32839555
DOI: 10.1038/s41433-020-01150-0
PMCID: PMC8169654

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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