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Article

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

Journal of medical genetics - 1 Feb 2004

Johnson S, Michaelides M, Aligianis I A, Ainsworth J R, Mollon J D, Maher E R, Moore A T, Hunt D M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 14757870
DOI: 10.1136/jmg.2003.011437
PMCID: PMC1735666

Genes

CNGA3
CNGB3

Provenance

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

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Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.PMID 14757870Read ↗

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[Genetic analysis of a Chinese pedigree affected with Achromatopsia due to variants of CNGA3 gene and a literature review].Semantic proximity Read ↗

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.Semantic proximity Read ↗

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Molecular and clinical characterization of Thai patients with achromatopsia: identification of three novel disease-associated variants in the CNGA3 and CNGB3 genes.Semantic proximity Read ↗

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.Semantic proximity Read ↗

[A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia].Semantic proximity Read ↗

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