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Article

GCAP1 mutations associated with autosomal dominant cone dystrophy.

Advances in experimental medicine and biology - 1 Jan 2010

Jiang Li, Baehr Wolfgang

Abstract excerpt

We discuss the heterogeneity of autosomal dominant cone and cone-rod dystrophies (adCD, and adCORD, respectively). As one of the best characterized adCD genes, we focus on the GUCA1A gene encoding guanylate cyclase activating protein 1 (GCAP1), a protein carrying three high affinity Ca(2+) binding motifs (EF hands). GCAP1 senses changes in cytoplasmic free [Ca(2+)] and communicates these changes to GC1, by either...

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Identifiers

PMID: 20238026
DOI: 10.1007/978-1-4419-1399-9_31
PMCID: PMC2857780

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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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