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Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F. | Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene | 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... | Linkage (Genetics); Middle Older people; Phenotype | 2001 |
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