Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
TMTC3基因的双等位基因突变(该基因编码一种跨膜蛋白和含TPR结构域的蛋白)会导致鹅卵石样脑回畸形
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.09.007
Jerber, Julie; Zaki, Maha S; Al-Aama, Jumana Y; Rosti, Rasim Ozgur; Ben-Omran, Tawfeg; Dikoglu, Esra; Silhavy, Jennifer L; Caglar, Caner; Musaev, Damir; Albrecht, Beate; Campbell, Kevin P; Willer, Tobias; Almuriekhi, Mariam; Çağlayan, Ahmet Okay; Vajsar, Jiri; Bilgüvar, Kaya; Ogur, Gonul; Abou Jamra, Rami; Günel, Murat; Gleeson, Joseph G