Lebersche kongenitale Amaurose 15 ist eine autosomal rezessive Erkrankung, die auf Mutationen des TULP1-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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den Hollander AI et al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. |
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Mataftsi A et al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. |
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OMIM.ORG article Omim 613843 |