Comprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy

PURPOSE: Bietti crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration disorder caused by mutations in CYP4V2. The aim of this study is to describe the genetic and clinical findings in 128 unrelated Chinese patients diagnosed with BCD. METHODS: Ophthalmological evaluations were p...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaohui, Xu, Ke, Dong, Bing, Peng, Xiaoyan, Li, Qian, Jiang, Feng, Xie, Yue, Tian, Lu, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257/
https://www.ncbi.nlm.nih.gov/pubmed/30429639

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