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| Creator | Title | Description | Subject | Date | ||
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 | 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 |
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