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A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family

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 iden...

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Main Authors: Sheng, Xunlun, Li, Zili, Zhang, Xinfang, Wang, Jing, Ren, Hongwang, Sun, Yanbo, Meng, Ruihua, Rong, Weining, Zhuang, Wenjuan
Formato: Artigo
Idioma:Inglês
Publicado: Molecular Vision 2010
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2927444/
https://ncbi.nlm.nih.gov/pubmed/20806050
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