Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients

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 op...

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Detalhes bibliográficos
Main Authors: Kamenarova, Kunka, Corton, Marta, García-Sandoval, Blanca, Fernández-San Jose, Patricia, Panchev, Valentin, Ávila-Fernández, Almudena, López-Molina, Maria Isabel, Chakarova, Christina, Ayuso, Carmen, Bhattacharya, Shomi S.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2013
Assuntos:
Clinical Study
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759255/
https://ncbi.nlm.nih.gov/pubmed/24024198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/517570
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