Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans
四肽重复域 26(鞭毛内运输 56)的双等位基因突变导致人类严重胆道纤毛病
期刊:Hepatology
影响因子:12.9
doi:10.1002/hep.30982
Ranad Shaheen #, Saud Alsahli #, Nour Ewida, Fatema Alzahrani, Hanan E Shamseldin, Nisha Patel, Awad Al Qahtani, Homoud Alhebbi, Amal Alhashem, Tarfa Al-Sheddi, Rana Alomar, Eman Alobeid, Mohamed Abouelhoda, Dorota Monies, Abdulrahman Al-Hussaini, Muneerah A Alzouman, Mohammad Shagrani, Eissa Faqeih