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Article

Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2001

Downes S M, Holder G E, Fitzke F W, Payne A M, Warren M J, Bhattacharya S S, Bird A C

Abstract excerpt

OBJECTIVE: To describe the phenotype in 3 families with dominantly inherited cone and cone-rod dystrophy with mutations in guanylate cyclase activator 1A (GUCA1A), the gene-encoding guanylate cyclase activator protein-1 (GCAP-1). METHODS: Phenotypic characterization with psychophysical and electr...

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PMID: 11146732

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11146732-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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