Lebersche kongenitale Amaurose 6 ist eine autosomal rezessive Erkrankung, die auf Mutationen des RPGRIP1-Gens beruht.
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Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay. ![]() |
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Dryja TP et al. (2001) Null RPGRIP1 alleles in patients with Leber congenital amaurosis. ![]() |
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Gerber S et al. (2001) Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. ![]() |
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Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. ![]() |
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Pawlyk BS et al. (2005) Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP. ![]() |
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OMIM.ORG article Omim 613826![]() |