A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy

PURPOSE: To determine the genetic basis of early onset autosomal recessive Best vitelliform macular dystrophy (arBVMD) in a family with three affected children. DESIGN: Clinical and family-based genetic study. METHODS: Seven subjects making up a family with three children affected by Best vitellifor...

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Main Authors: Zhao, L, Grob, S, Corey, R, Krupa, M, Luo, J, Du, H, Lee, C, Hughes, G, Lee, J, Quach, J, Zhu, J, Shaw, P X, Kozak, I, Zhang, K
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2012
Fag:
Laboratory Study
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3376281/
https://ncbi.nlm.nih.gov/pubmed/22422030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/eye.2012.27
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