Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy

PURPOSE: To describe the genetic landscape of BEST1 for a large Chinese cohort with autosomal recessive bestrophinopathy (ARB), identify the missing heritability, and report a common Chinese founder variant. METHODS: We recruited 65 patients from 63 families with a clinical diagnosis of ARB. All pat...

Descripción completa

Detalles Bibliográficos
Autores principales: Shi, Jie, Tian, Lu, Sun, Tengyang, Zhang, Xiao, Xu, Ke, Xie, Yue, Peng, Xiaoyan, Tang, Xin, Jin, Zi-Bing, Li, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528473/
https://www.ncbi.nlm.nih.gov/pubmed/37747403
http://dx.doi.org/10.1167/iovs.64.12.37

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528473/
https://www.ncbi.nlm.nih.gov/pubmed/37747403
http://dx.doi.org/10.1167/iovs.64.12.37

Ejemplares similares