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...

Source: BMC Medical Genetics - January 22, 2020 Category: Genetics & Stem Cells Authors: Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su and Ke Yao Tags: Research article Source Type: research