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BESTROPHINOPATHY

 
National Institutes of Health

Papers overview

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2019
2019
Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD… Expand
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2019
2019
Background Bestrophin-1 (BEST1) gene is associated with a wide range of ocular phenotypes, collectively termed as… Expand
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2019
2019
To identify Bestrophin 1 (BEST1) causative mutations in six Lebanese patients from three families, of whom four had a presumed… Expand
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2018
2018
Bestinopathies are a spectrum of retinal disorders associated with mutations in BEST1 including autosomal recessive… Expand
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Review
2017
Review
2017
Bestrophinopathies, one of the most common forms of inherited macular degenerations, are caused by mutations in the BEST1 gene… Expand
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2017
2017
Herein, we report the case of an 8-year-old girl who presented in December 2000 with a submacular neovascular membrane in the… Expand
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2016
2016
Purpose: To describe the variable ocular phenotype associated with a heterozygous mutation in the BEST1 gene. Methods: Clinical… Expand
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2015
2015
Abstract Introduction: Bestrophinopathies result from mutations within the BEST1 gene; although multiple gene mutations have been… Expand
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2014
2014
BEST1 encodes Bestrophin-1 (Best1), a homo-oligomeric, integral membrane protein localized to the basolateral plasma membrane of… Expand
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2014
2014
Purpose The purpose of this study was to analyze BEST1 gene mutations in Chinese patients with bestrophinopathy and to describe… Expand
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