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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Invest Ophthalmol Vis Sci
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: The Association for Research in Vision and Ophthalmology 2015
Ämnen:
Articles
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk