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

@inproceedings{Kamenarova2013NovelGM,
  title={Novel GUCA1A Mutations Suggesting Possible Mechanisms of Pathogenesis in Cone, Cone-Rod, and Macular Dystrophy Patients},
  author={Kunka Kamenarova and Marta Corton and Blanca Garc{\'i}a-Sandoval and Patricia Fern{\'a}ndez-San Jose and Valentin Panchev and Almudena {\'A}vila-Fern{\'a}ndez and Mar{\'i}a Isabel L{\'o}pez-Molina and Christina F. Chakarova and Carmen Ayuso and Shomi Shanker Bhattacharya},
  booktitle={BioMed research international},
  year={2013}
}
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 undertaken on the pedigree. Haplotype analysis revealed a 55.37 Mb genomic interval… CONTINUE READING

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