Article
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.
Investigative ophthalmology & visual science - 1 Oct 2007
Yu Kuai, Qu Zhiqiang, Cui Yuanyuan, Hartzell H Criss
Abstract excerpt
PURPOSE: Mutations in the hBest1 (VMD2) gene are linked to various kinds of macular degeneration, including Best vitelliform macular dystrophy (BVMD) and adult-onset vitelliform macular dystrophy (AVMD). The age at onset and severity of disease are quite variable. This study was conducted to examine Cl(-) currents generated by six hBest1 mutations (E119Q, A146K, T216I, DeltaI295, D312N, and L567F) found in...
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