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Article

Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.

BioMed research international - 1 Jan 2013

Kamenarova Kunka, Corton Marta, García-Sandoval Blanca, Fernández-San Jose Patricia, Panchev Valentin, Avila-Fernández Almudena, López-Molina Maria Isabel, Chakarova Christina, Ayuso Carmen, Bhattacharya Shomi S

Abstract excerpt

Here, we report two novel GUCA1A (the gene for guanylate cyclase activating protein 1) mutations identified in unrelated Spanish families affected by autosomal dominant retinal degeneration (adRD) with cone and rod involvement. All patients from a three-generation adRD pedigree underwent detailed ophthalmic evaluation. Total genome scan using single-nucleotide polymorphisms and then the linkage analysis were...

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Identifiers

PMID: 24024198
DOI: 10.1155/2013/517570
PMCID: PMC3759255

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Source receipt: pubmed, retrieved 7 Sept 2026.

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