Differential pattern of RP1 mutations in retinitis pigmentosa

PURPOSE: Retinitis pigmentosa 1 (RP1) is a major gene responsible for both autosomal dominant and autosomal recessive retinitis pigmentosa (RP). We have previously identified three disease-causing mutations out of 174 RP patients. In this study, we investigated a new cohort of Chinese RP patients to...

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書誌詳細
主要な著者: Zhang, Xin, Chen, Li Jia, Law, Jonathan P., Lai, Timothy Y.Y., Chiang, Sylvia W.Y., Tam, Pancy O.S., Chu, Kwan Yi, Wang, Ningli, Zhang, Mingzhi, Pang, Chi Pui
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2010
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2905640/
https://ncbi.nlm.nih.gov/pubmed/20664799
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