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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Bibliografiske detaljer
Autores principales: Zhang, Xiaohui, Xu, Ke, Dong, Bing, Peng, Xiaoyan, Li, Qian, Jiang, Feng, Xie, Yue, Tian, Lu, Li, Yang
Format: Online Artículo Texto
Sprog:English
Udgivet: Molecular Vision 2018
Fag:
Research Article
Online adgang:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257/
https://www.ncbi.nlm.nih.gov/pubmed/30429639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204257/
https://www.ncbi.nlm.nih.gov/pubmed/30429639

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