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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 |
 | Baehr, Wolfgang | Novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration | PURPOSE: To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation. METHODS: The GCAP1 and GCAP2 genes were screened by direct sequencing for mutations in 216 pat... | DNA Mutational Analysis; Mutation, Missense; Electroretinography | 2004 |
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