Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.

In conclusion, BEST1 gene mutations and polymorphisms have been reported in diverse ethnic groups, and the present study identified a novel BEST1 gene mutation and an SNP that occurred simultaneously in a Chinese patient with BVMD. PMID: 28791410 [PubMed - as supplied by publisher]
Source: Molecular Medicine Reports - Category: Molecular Biology Tags: Mol Med Rep Source Type: research