Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Whole exome sequencing (WES) is a powerful technique for identifying sequence changes in the human genome. The goal of this study was to delineate the genetic defects in patients with inherited retinal diseases (IRDs) using WES. WES was performed on 90 patient DNA samples from 68 families and 226 kn...

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Detalles Bibliográficos
Autores principales: Beryozkin, Avigail, Shevah, Elia, Kimchi, Adva, Mizrahi-Meissonnier, Liliana, Khateb, Samer, Ratnapriya, Rinki, Lazar, Csilla H., Blumenfeld, Anat, Ben-Yosef, Tamar, Hemo, Yitzhak, Pe’er, Jacob, Averbuch, Eduard, Sagi, Michal, Boleda, Alexis, Gieser, Linn, Zlotogorski, Abraham, Falik-Zaccai, Tzipora, Alimi-Kasem, Ola, Jacobson, Samuel G., Chowers, Itay, Swaroop, Anand, Banin, Eyal, Sharon, Dror
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549705/
https://www.ncbi.nlm.nih.gov/pubmed/26306921
http://dx.doi.org/10.1038/srep13187

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