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| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
| 1 |
 | Baehr, Wolfgang; Katz, Bradley J.; Creel, Donnell J.; Zhang, Kang | Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) | PURPOSE: To describe the clinical features and genetic analysis of a family with an autosomal dominant cone dystrophy (adCD). METHODS: Selected members of a family with an autosomal dominant cone dystrophy underwent ophthalmic evaluation. Blood samples were obtained, genomic DNA was isolated, and ge... | Mutation, Missense; DNA Mutational Analysis; Electroretinography | 2005 |
| 2 |
 | Zhang, Kang | Loss of ER retention and sequestration of the wild-type ELOVL4 by Stargardt disease dominant negative mutants | PURPOSE: Mutations in ELOVL4, a member of the fatty acid elongase (ELO) family, are responsible for autosomal dominant Stargardt-like macular degeneration. The specific role of ELOVL4 in photoreceptors and the degenerative events induced by dominant ELOVL4 mutations are not well understood. As a fir... | Macular Degeneration; Transcription Factor CHOP; Molecular Chaperones | 2005 |
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