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Article

Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.

Molecular vision - 17 Mar 2010

Liu Xiaowen, Tang Zhaohui, Li Chang, Yang Kangjuan, Gan Guanqi, Zhang Zibo, Liu Jingyu, Jiang Fagang, Wang Qing, Liu Mugen

Abstract excerpt

PURPOSE: To identify the disease-causing gene in a four-generation Chinese family affected with retinitis pigmentosa (RP). METHODS: Linkage analysis was performed with a panel of microsatellite markers flanking the candidate genetic loci of RP. These loci included 38 known RP genes. The complete coding region and exon-intron boundaries of Usher syndrome 2A (USH2A) were sequenced with the proband DNA to screen the...

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Identifiers

PMID: 20309401
DOI: 10.1167/3.9.454
PMCID: PMC2842093

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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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