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Article

Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

6 Nov 2013

Abstract excerpt

Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of all LCA cases in Europe and North-America, is a mutation (c.2991+1655AG) in intron 26 of CEP290. This mutation generates a cryptic splice donor site resulting in the insertion of an aberrant exon (exon X) containing a premature...

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PMID: 24223178
DOI: 10.1371/journal.pone.0079369

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Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital AmaurosisPMID 24223178Read ↗

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