Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Leber congenital amaurosis 5 is an autosomal recessive disorder caused by mutations of the LCA5 gene.
| 1. |
Zernant J et al. (2005) Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. 
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| 2. |
Dharmaraj S et al. (2000) A novel locus for Leber congenital amaurosis maps to chromosome 6q.
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| 3. |
Mohamed MD et al. (2003) Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.
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| 4. |
den Hollander AI et al. (2007) Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
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| 5. |
OMIM.ORG article Omim 604537
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