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Article

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration.

Cold Spring Harbor perspectives in medicine - 17 Jun 2014

Siemiatkowska Anna M, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M

Abstract excerpt

In view of their high degree of genetic heterogeneity, inherited retinal diseases (IRDs) pose a significant challenge for identifying novel genetic causes. Thus far, more than 200 genes have been found to be mutated in IRDs, which together contain causal variants in >80% of the cases. Accurate genetic diagnostics is particularly important for isolated cases, in which X-linked and de novo autosomal dominant...

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PMID: 24939053
DOI: 10.1101/cshperspect.a017137
PMCID: PMC4109577

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