Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 05

Leber congenital amaurosis 5 is an autosomal recessive disorder caused by mutations of the LCA5 gene.

Systematic

Leber congenital amaurosis
Leber congenital amaurosis 01
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Leber congenital amaurosis 05
LCA5
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References:

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 [^]
Update: April 29, 2019