SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
SCAPER 定位于初级纤毛,其突变影响纤毛长度,导致 Bardet-Biedl 综合征
期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-019-0347-z
Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir, Inna Goliand, Yair Sadka, Saad El Riati, Hagit Flusser, Dikla Nachmias, Ruth Birk, Muhamad Iraqi, Einat Kadar, Roni Gat, Max Drabkin, Daniel Halperin, Amir Horev, Sara Sivan, Uri Abdu, Natalie Elia, Ohad S Birk