Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family
在近亲婚配家族中,鉴定并进行计算机模拟分析TGM1基因中与先天性鱼鳞病分离的纯合无义变异。
期刊:Medicina-Lithuania
影响因子:2.4
doi:10.3390/medicina59010103
Almazroea, Abdulhadi; Ijaz, Ambreen; Aziz, Abdul; Mushtaq Yasinzai, Muhammad; Rafiullah, Rafiullah; Rehman, Fazal Ur; Daud, Shakeela; Shaikh, Rozeena; Ayub, Muhammad; Wali, Abdul