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Filters: Format Medium: "application/pdf" Collection: "ir_uspace" Subject: "Polymorphism, Single-Stranded Conformational"
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| Creator | Title | Description | Subject | Date | ||
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 | Baehr, Wolfgang | Novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD) | PURPOSE: To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG... | Polymorphism, Single-Stranded Conformational; Guanylate Cyclase-Activating Proteins; DNA Mutational Analysis | 2005 |
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