Article
Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene.
Investigative ophthalmology & visual science - 1 Dec 2001
Bernstein P S, Tammur J, Singh N, Hutchinson A, Dixon M, Pappas C M, Zabriskie N A, Zhang K, Petrukhin K, Leppert M, Allikmets R
Abstract excerpt
PURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy. This has been the only mutation identified in ELOVL4 to date, which is associated with macular dystrophy...
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