Species-Dependent Splice Recognition of a Cryptic Exon Resulting from a Recurrent Intronic CEP290 Mutation that Causes Congenital Blindness

A mutation in intron 26 of CEP290 (c.2991+1655A>G) is the most common genetic cause of Leber congenital amaurosis (LCA), a severe type of inherited retinal degeneration. This mutation creates a cryptic splice donor site, resulting in the insertion of an aberrant exon (exon X) into ~50% of all CEP...

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Detalles Bibliográficos
Autores principales: Garanto, Alejandro, Duijkers, Lonneke, Collin, Rob W. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394476/
https://www.ncbi.nlm.nih.gov/pubmed/25761237
http://dx.doi.org/10.3390/ijms16035285

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4394476/
https://www.ncbi.nlm.nih.gov/pubmed/25761237
http://dx.doi.org/10.3390/ijms16035285

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