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Article

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

PloS one - 29 Jan 2010

Becirovic Elvir, Nakova Kostadinka, Hammelmann Verena, Hennel Roman, Biel Martin, Michalakis Stylianos

Abstract excerpt

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)....

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Source

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Identifiers

PMID: 20126465
DOI: 10.1371/journal.pone.0008969
PMCID: PMC2813295

Genes

CNGB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20126465-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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