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| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
| 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 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 |
| 2 |
 | Baehr, Wolfgang; Frederick, Jeanne M.; Church-Kopish, Jill; Howes, Kimberly | Mutant rhodopsin transgene expression on a null background | PURPOSE. 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; Rhodopsin | 2001-03 |
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