Lebersche kongenitale Amaurose 2 ist eine autosomal rezessive Erkrankung, die auf Mutationen des RPE65-Gens beruht.
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Yzer S et al. (2003) A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. |
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WAARDENBURG PJ et al. (1963) ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S 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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Maguire AM et al. (2008) Safety and efficacy of gene transfer for Leber's congenital amaurosis. |
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Bainbridge JW et al. (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis. |
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Cideciyan AV et al. (2008) Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. |
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Cideciyan AV et al. (2009) Vision 1 year after gene therapy for Leber's congenital amaurosis. |
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Maguire AM et al. (2009) Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. |
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OMIM.ORG article Omim 204100 |