A. Gómez, J. Cedano, B. Oliva, J. Piñol, E. Querol
{"title":"The Gene Causing the Best's Macular Dystrophy (BMD) Encodes a Putative Ion Exchanger","authors":"A. Gómez, J. Cedano, B. Oliva, J. Piñol, E. Querol","doi":"10.3109/10425170109084470","DOIUrl":null,"url":null,"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.","PeriodicalId":11381,"journal":{"name":"DNA Sequence","volume":"17 1","pages":"431 - 435"},"PeriodicalIF":0.0000,"publicationDate":"2001-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"8","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"DNA Sequence","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3109/10425170109084470","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 8
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.