Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 15 is an autosomal recessive disorder caused by mutations of the TULP1 gene.
| 1. |
Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. 
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| 2. |
Hanein S et al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
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| 3. |
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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| 4. |
Mataftsi A et al. (2007) Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
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| 5. |
OMIM.ORG article Omim 613843
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