Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
全外显子组测序揭示，在68个患有遗传性视网膜病的以色列家庭中，有33个家庭存在已知视网膜疾病基因的突变。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/srep13187
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
