Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
CEP78（编码中心体蛋白 78）的双等位基因截断突变导致视锥细胞-视杆细胞退化，并引起神经性听力损失
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.07.010
Prasanthi Namburi, Rinki Ratnapriya, Samer Khateb, Csilla H Lazar, Yael Kinarty, Alexey Obolensky, Inbar Erdinest, Devorah Marks-Ohana, Eran Pras, Tamar Ben-Yosef, Hadas Newman, Menachem Gross, Anand Swaroop, Eyal Banin, Dror Sharon
