Article
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Investigative ophthalmology & visual science - 3 Jul 2012
Burke Tomas R, Fishman Gerald A, Zernant Jana, Schubert Carl, Tsang Stephen H, Smith R Theodore, Ayyagari Radha, Koenekoop Robert K, Umfress Allison, Ciccarelli Maria Laura, Baldi Alfonso, Iannaccone Alessandro, Cremers Frans P M, Klaver Caroline C W, Allikmets Rando
Abstract excerpt
PURPOSE: We evaluated the pathogenicity of the G1961E mutation in the ABCA4 gene, and present the range of retinal phenotypes associated with this mutation in homozygosity in a patient cohort with ABCA4-associated phenotypes. METHODS: Patients were enrolled from the ABCA4 disease database at Columbia University or by inquiry from collaborating physicians. Only patients homozygous for the G1961E mutation were...
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