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pubmed-article:18307799pubmed:abstractTextMutations in human bestrophin 1 are associated with at least three autosomal-dominant macular dystrophies including Best disease, adult onset vitelliform macular dystrophy and autosomal dominant vitreo-retinochoroidopathy. The protein is integral to the membrane and is likely involved in Ca2+-dependent transport of chloride ions across cellular membranes. Bestrophin 1 together with its three homologues forms a phylogenetically highly conserved family of proteins.lld:pubmed
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pubmed-article:18307799pubmed:articleTitleMolecular evolution and functional divergence of the bestrophin protein family.lld:pubmed
pubmed-article:18307799pubmed:affiliationInstitute of Human Genetics, University of Regensburg, Regensburg, Germany. milenkovic@eye-regensburg.delld:pubmed
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