SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis
SEC24C 缺乏症会导致癫痫性脑病伴白内障和红细胞生成障碍，并引起转运和糖基化异常。
期刊:JCI Insight
影响因子:6.3
doi:10.1172/jci.insight.173484
Nina Bögershausen ,Büsranur Cavdarli ,Taylor H Nagai ,Miroslav P Milev ,Alexander Wolff ,Mahsa Mehranfar ,Julia Schmidt ,Dharmendra Choudhary ,Óscar Gutiérrez-Gutiérrez ,Lukas Cyganek ,Djenann Saint-Dic ,Arne Zibat ,Karl Köhrer ,Tassilo E Wollenweber ,Dagmar Wieczorek ,Janine Altmüller ,Tatiana Borodina ,Dilek Kaçar ,Göknur Haliloğlu ,Yun Li ,Christian Thiel ,Michael Sacher ,Ela W Knapik ,Gökhan Yigit ,Bernd Wollnik
