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Article

Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene

18 Dec 2013

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 24352742
DOI: 10.1007/s10633-013-9420-z

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Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A genePMID 24352742Read ↗

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

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Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.Semantic proximity Read ↗

GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?Semantic proximity Read ↗

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Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophiesSemantic proximity Read ↗

A retGC-1 Mutation in Autosomal Dominant Cone-Rod DystrophySemantic proximity Read ↗

Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.Semantic proximity Read ↗

Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).Semantic proximity Read ↗

Phenotypic characterization of autosomal dominant progressive cone dystrophies associated with a heterozygous variant c.2512C>T of GUCY2D gene in a large kindred.Semantic proximity Read ↗

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