Filters: Department: "Neurology" School Or College: "School of Medicine" Date: "2002" Collection: ir_uspace
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Bernstein, Paul S.; Leppert, Mark F. | Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings | PURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli... | DNA Mutational Analysis; Nuclear Family; Phenotype | 2002 |
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