Lebersche kongenitale Amaurose 4 ist eine autosomal rezessive Erkrankung, die auf Mutationen des AIPL1-Gens beruht.
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Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. |
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Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. |
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Sohocki MM et al. (2000) Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. |
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Sohocki MM et al. (2000) Prevalence of AIPL1 mutations in inherited retinal degenerative disease. |
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Kirschman LT et al. (2010) The Leber congenital amaurosis protein, AIPL1, is needed for the viability and functioning of cone photoreceptor cells. |
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Aboshiha J et al. (2015) Preserved outer retina in AIPL1 Leber's congenital amaurosis: implications for gene therapy. |
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Hameed A et al. (2000) A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. |
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Booij JC et al. (2005) Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. |
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OMIM.ORG article Omim 604393 |