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CreatorTitleDescriptionSubjectDate
1 Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F.Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 genePURPOSE: 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; Phenotype2001
2 Baehr, Wolfgang; Frederick, Jeanne M.; Church-Kopish, Jill; Howes, KimberlyMutant rhodopsin transgene expression on a null backgroundPURPOSE. To study mechanisms leading to photoreceptor degeneration in mouse models for autosomal dominant retinitis pigmentosa (adRP) based on the rhodopsin P23H mutation. METHODS. Mice of a transgenic line expressing a rhodopsin triple mutant, V20G, P23H, and P27L (GHL), were mated with rhodopsin (...Mutant Rhodopsin; Photoreceptor Degeneration; Autosomal Dominant Retinitis Pigmentosa; Rhodopsin2001-03
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