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Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy

PURPOSE: To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti’s crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD. METHODS: All study participants underwent a complet...

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書誌詳細
出版年:Mol Vis
主要な著者: Meng, Xiao Hong, Guo, Hong, Xu, Hai Wei, Li, Qi You, Jin, Xin, Bai, Yun, Li, Shi Ying, Yin, Zheng Qin
フォーマット: Artigo
言語:Inglês
出版事項: Molecular Vision 2014
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4287718/
https://ncbi.nlm.nih.gov/pubmed/25593508
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