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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Bibliographic Details

Published in:	BioMed Research International Vol. 2013; pp. 517570 - 517571
Main Authors:	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
Format:	Journal Article
Published:	Wiley-Blackwell 2013
Online Access:	View this record in EBSCOhost