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Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population

Mutations in the gene BEST1 usually cause bestrophinopathies, such as the rare progressive diseases Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). This study aimed to investigate the clinical characteristics of patients with BVMD or ARB carrying BEST1 mutat...

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Detalles Bibliográficos
Autores principales:	Gao, Tingting, Tian, Chengqiang, Hu, Qinrui, Liu, Zhiming, Zou, Jimei, Huang, Lvzhen, Zhao, Mingwei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220750/ https://www.ncbi.nlm.nih.gov/pubmed/30498755 http://dx.doi.org/10.1155/2018/4582816

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