Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile | BMC Medical Genetics | Full Text

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile | BMC Medical Genetics | Full Text

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile

Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a con...

Authors:Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su and Ke Yao

Citation:BMC Medical Genetics 2020 21:16

Content type:Research article

Published on: 22 January 2020

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