New <i>VMD2</i> gene mutations identified in patients affected by Best vitelliform macular dystrophy

Abstract excerpt

PURPOSE: The mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1) which is a Ca(2+)-sensitive chloride channel. This study was performed to identify disease-specific mutations in 27 patients with BVMD. Because this disease is characterised by an alteration in Cl(-) channel function, patch...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Developmental Biology and Gene Regulation
• Share to Retinal Development and Disorders
• Share to Retinal Diseases and Treatments