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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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Enregistré dans:
Détails bibliographiques
Publié dans:Biomed Res Int
Auteurs principaux: Gao, Tingting, Tian, Chengqiang, Hu, Qinrui, Liu, Zhiming, Zou, Jimei, Huang, Lvzhen, Zhao, Mingwei
Format: Artigo
Langue:Inglês
Publié: Hindawi 2018
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6220750/
https://ncbi.nlm.nih.gov/pubmed/30498755
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/4582816
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