A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)

被引：0

作者：

Antaki, Fares ^{[1
]}

Coussa, Razek Georges ^{[1
]}

Chakarova, Christina ^{[2
]}

Wakil, Susan ^{[1
]}

Sun, Vincent ^{[1
]}

Lachapelle, Pierre ^{[3
]}

Dorfman, Allison ^{[1
]}

Lopez, Irma ^{[1
]}

Kamenarova, Kunka ^{[4
]}

Bhattacharya, Shomi S. ^{[2
]}

Koenekoop, Robert K. ^{[1
]}

机构：

[1] McGill Univ, Ctr Hlth, McGill Ocular Genet Lab, Montreal, PQ, Canada

[2] UCL Inst Ophthalmol, London, England

[3] McGill Univ, Dept Ophthalmol & Neurol Neurosurg, Montreal Childrens Hosp, Res Inst, Montreal, PQ, Canada

[4] Andalusian Mol Biol & Regenerat Med Ctr, Dept Cellular Therapy & Regenerat Med, Seville, Spain

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D O I：

暂无

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

127

引用

页数：4