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Article

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.

Journal of medical genetics - 1 Oct 2002

Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S

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Identifiers

PMID: 12362048
DOI: 10.1136/jmg.39.10.e66
PMCID: PMC1734976

Genes

CNGA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa.PMID 12362048Read ↗

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Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.Semantic proximity Read ↗

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.Semantic proximity Read ↗

Mutations within the cGMP-binding domain of CNGA1 causing autosomal recessive retinitis pigmentosa in human and animal modelSemantic proximity Read ↗

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone DystrophySemantic proximity Read ↗

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