Lebersche kongenitale Amaurose 5 ist eine autosomal rezessive Erkrankung, die auf Mutationen des LCA5-Gens beruht.
1. |
Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. |
2. |
Dharmaraj S et al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q. |
3. |
Mohamed MD et al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. |
4. |
den Hollander AI et al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. |
5. |
OMIM.ORG article Omim 604537 |