Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
编码中心体蛋白78的CEP78基因的双等位基因截断突变会导致视锥细胞-视杆细胞变性并伴有感音神经性听力损失。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.09.012
Namburi, Prasanthi; Ratnapriya, Rinki; Khateb, Samer; Lazar, Csilla H; Kinarty, Yael; Obolensky, Alexey; Erdinest, Inbar; Marks-Ohana, Devorah; Pras, Eran; Ben-Yosef, Tamar; Newman, Hadas; Gross, Menachem; Swaroop, Anand; Banin, Eyal; Sharon, Dror