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Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy

PURPOSE: The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe the clinical features of these patients. METHODS: Thirteen patients from 12 unrelated Chinese families affected by bestrophinopathy were recruited and clinically evaluated...

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Detalles Bibliográficos
Autores principales: Tian, Rong, Yang, Guoxing, Wang, Jing, Chen, Youxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225144/
https://www.ncbi.nlm.nih.gov/pubmed/25489231