Article
A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy.
Investigative ophthalmology & visual science - 1 Dec 2004
Maugeri Alessandra, Meire Francoise, Hoyng Carel B, Vink Carolien, Van Regemorter Nicole, Karan Goutam, Yang Zhenglin, Cremers Frans P M, Zhang Kang
Abstract excerpt
PURPOSE: To conduct clinical and genetic studies in a European family with autosomal dominant Stargardt-like macular dystrophy (adSTGD-like MD) and to investigate the functional consequences of a novel ELOVL4 mutation. METHODS: Ophthalmic examination and mutation screening by direct sequencing of the ELOVL4 gene was performed in two affected individuals. Wild-type and mutant ELOVL4 genes were expressed as...
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