An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy

PURPOSE: Bietti crystalline dystrophy (BCD) is a rare monogenic autosomal recessive (AR) chorioretinal degenerative disease caused by biallelic mutations in CYP4V2. The aim of the current study was to perform an in-depth calculation of worldwide carrier frequency and genetic prevalence of BCD using...

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Detalles Bibliográficos
Autores principales: Hanany, Mor, Yang, Richard Rui, Lam, Chun Man, Beryozkin, Avigail, Sundaresan, Yogapriya, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940774/
https://www.ncbi.nlm.nih.gov/pubmed/36795063
http://dx.doi.org/10.1167/tvst.12.2.27

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