Novel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations

PURPOSE: To identify any novel mutations in CYP4V2 in 85 Chinese families with Bietti corneoretinal crystalline dystrophy (BCD) by using next-generation sequencing, and to summarize the mutation spectrum in this population, along with any genotype-phenotype correlations. METHODS: A total of 90 patie...

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Veröffentlicht in:Mol Vis
Hauptverfasser: Meng, Xiao Hong, He, Yan, Zhao, Tong Tao, Li, Shi Ying, Liu, Yong, Yin, Zheng Qin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Molecular Vision 2019
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6828992/
https://ncbi.nlm.nih.gov/pubmed/31741654
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