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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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 | Bernstein, Paul S. | Transformations of selected carotenoids in plasma, liver, and ocular tissues of humans and in nonprimate animal models | PURPOSE: To determine the stereochemistry of carotenoids in human ocular tissues in comparison with plasma and liver and to elucidate the possible transformations of dietary (3R,3'R,6'R)-lutein and (3R,3'R)-zeaxanthin in the eye. Similarly, to characterize the carotenoid profiles in the eye tissues,... | Chromatography, High Pressure Liquid; Stereoisomerism; Xanthophylls | 2002 |