A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family
巴基斯坦一个家族中,TTC8基因的一种新型蛋白质截短突变导致巴德-比德尔综合征(BBS)的发生。
期刊:Genetics and Molecular Biology
影响因子:1.3
doi:10.1590/1678-4685-GMB-2025-0020
Fatima, Sana; Sun, Dong; Han, Jianguo; Qiu, Ming; Ahmad, Safeer; Zubair, Muhammad; Ali, Muhammad Zeeshan; Abbas, Safdar; Shafiq, Maria; Muzammal, Muhammad; Gul, Hadia; Khan, Jabbar; Du, Shiwei; Khan, Muzammil Ahmad