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Article

Molecular basis of an inherited form of incomplete achromatopsia.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 7 Jan 2004

Tränkner Dimitri, Jägle Herbert, Kohl Susanne, Apfelstedt-Sylla Eckart, Sharpe Lindsay T, Kaupp U Benjamin, Zrenner Eberhart, Seifert Reinhard, Wissinger Bernd

Abstract excerpt

Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia. Here we analyze the molecular basis of achromatopsia in two siblings with residual cone function. Psychophy...

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Source

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Identifiers

PMID: 14715947
DOI: 10.1523/JNEUROSCI.3883-03.2004
PMCID: PMC6729583

Genes

CNGA3
CNGB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14715947-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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