The gene causing the Best's macular dystrophy (BMD) encodes a putative ion exchanger.
作者信息
Gómez A, Cedano J, Oliva B, Piñol J, Querol E
机构信息
Departament de Bioquímica i Biologia Molecular, Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
出版信息
DNA Seq. 2001 Dec;12(5-6):431-5. doi: 10.3109/10425170109084470.
PMID:11913792
Abstract
Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested.
摘要
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