The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32

Retinitis pigmentosa (RP) is a severe hereditary eye disorder characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod cyclic nucleotide-gated channel (CNGB1a). One...

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Detalles Bibliográficos
Autores principales: Becirovic, Elvir, Nakova, Kostadinka, Hammelmann, Verena, Hennel, Roman, Biel, Martin, Michalakis, Stylianos
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813295/
https://www.ncbi.nlm.nih.gov/pubmed/20126465
http://dx.doi.org/10.1371/journal.pone.0008969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2813295/
https://www.ncbi.nlm.nih.gov/pubmed/20126465
http://dx.doi.org/10.1371/journal.pone.0008969

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