Whole Exome Sequencing Reveals GUCY2D as a Major Gene Associated With Cone and Cone–Rod Dystrophy in Israel

PURPOSE. The Israeli population has a unique genetic make-up, with a high prevalence of consanguineous marriages and autosomal recessive diseases. In rod-dominated phenotypes, disease-causing genes and mutations that differ from those identified in other populations often are incurred. We used whole...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: Lazar, Csilla H., Mutsuddi, Mousumi, Kimchi, Adva, Zelinger, Lina, Mizrahi-Meissonnier, Liliana, Marks-Ohana, Devorah, Boleda, Alexis, Ratnapriya, Rinki, Sharon, Dror, Swaroop, Anand, Banin, Eyal
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4296770/
https://ncbi.nlm.nih.gov/pubmed/25515582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.14-15647
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