Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis
使用患者来源的细胞模型来表征孤立性肾痨患者的复合杂合低等位基因 C2CD3 变异
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddae182
Zachary T Sentell, Lina Mougharbel, Zachary W Nurcombe, Sima Babayeva, Marc Henein, Lee Lee Chu, Murielle M Akpa, Chen-Fang Chung, Jean-Baptiste Rivière, Mihaela Pupavac, Rui Li, David S Rosenblatt, Jacek Majewski, Paul R Goodyer, Elena Torban, Thomas M Kitzler