New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

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...

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Detalhes bibliográficos
Main Authors: Marchant, D, Yu, K, Bigot, K, Roche, O, Germain, A, Bonneau, D, Drouin‐Garraud, V, Schorderet, D F, Munier, F, Schmidt, D, Neindre, P Le, Marsac, C, Menasche, M, Dufier, J L, Fischmeister, R, Hartzell, C, Abitbol, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2007
Assuntos:
Online Mutation Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2598027/
https://ncbi.nlm.nih.gov/pubmed/17287362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.044511
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