The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.

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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Autores principales: Elvir Becirovic, Kostadinka Nakova, Verena Hammelmann, Roman Hennel, Martin Biel, Stylianos Michalakis
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2010
Materias:
Medicine
R
Science
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Acceso en línea:https://doaj.org/article/4347f29f96c744399b121612794f6aa9
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