Article
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
Experimental eye research - 15 Jun 2009
Cella Wener, Greenstein Vivienne C, Zernant-Rajang Jana, Smith Theodore R, Barile Gaetano, Allikmets Rando, Tsang Stephen H
Abstract excerpt
The aim of this study was to characterize the pathological and functional consequences of the G1961E mutant allele in the Stargardt disease gene ABCA4. Data from 15 patients were retrospectively reviewed and all the patients had at least one G1961E mutation. Comprehensive ophthalmic examination, full-field and pattern electroretinograms, and fundus autofluorescence (FAF) imaging were performed on all patients....
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