Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

Inherited retinal diseases (IRDs) are heterogeneous phenotypes caused by variants in a large number of genes. Disease prevalence and the frequency of carriers in the general population have been estimated in only a few studies, but are largely unknown. To this end, we developed two parallel methods...

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Foilsithe in:Eur J Hum Genet
Main Authors: Hanany, Mor, Allon, Gilad, Kimchi, Adva, Blumenfeld, Anat, Newman, Hadas, Pras, Eran, Wormser, Ohad, S. Birk, Ohad, Gradstein, Libe, Banin, Eyal, Ben-Yosef, Tamar, Sharon, Dror
Formáid: Artigo
Teanga:Inglês
Foilsithe: Springer International Publishing 2018
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057931/
https://ncbi.nlm.nih.gov/pubmed/29706639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0152-0
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