Article
A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.
Molecular vision - 15 Aug 2010
Sheng Xunlun, Li Zili, Zhang Xinfang, Wang Jing, Ren Hongwang, Sun Yanbo, Meng Ruihua, Rong Weining, Zhuang Wenjuan
Abstract excerpt
PURPOSE: To screen the mutation in the retinitis pigmentosa GTPase regulator (RPGR) ORF15 in a large Chinese family with X-linked recessive retinitis pigmentosa and describe the phenotype in affected male and female carriers. METHODS: Ophthalmic examination was performed on 77 family members to identify affected individuals and to characterize the disease phenotype. PCR and direct sequencing were used for...
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