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Article

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

Vision research - 1 Oct 2008

Jiang Li, Wheaton Dianna, Bereta Grzegorz, Zhang Kang, Palczewski Krzysztof, Birch David G, Baehr Wolfgang

Abstract excerpt

The GUCA1A gene encodes a guanylate cyclase activating protein (GCAP1) that is involved in regulation of phototransduction in the vertebrate retina. We discovered a novel C312A transversion in exon 2 of the human GUCA1A gene, replacing Asn-104 (N104) in GCAP1 with Lys (K), in two affected members of a family with dominant cone dystrophy. The mutation N104K is located in the third EF-hand motif (EF3) shown...

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Source

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Identifiers

PMID: 18706439
DOI: 10.1016/j.visres.2008.07.016
PMCID: PMC2584361

Genes

ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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