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Article

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2007

Jin Zi-Bing, Gu Feng, Ma Xu, Nao-i Nobuhisa

Abstract excerpt

OBJECTIVE: To investigate the phenotypic and genotypic characteristics of a novel mutation associated with X-linked retinitis pigmentosa (XLRP). METHODS: Six individuals in a family with XLRP were recruited, and clinical examinations were performed. All of the members were genotyped with microsatellite markers at loci that were considered to be associated with XLRP. The retinitis pigmentosa GTPase regulator gene...

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Source

Identifiers

PMID: 17923551
DOI: 10.1001/archopht.125.10.1407

Genes

RPGR

Provenance

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