Novel ANO5 mutation c.1067G>T (p.C356F) identified by whole genome sequencing in a big family with atypical gnathodiaphyseal dysplasia
通过全基因组测序在一个患有非典型颌骨干发育不良的大家族中发现了一种新的ANO5突变c.1067G>T (p.C356F)。
期刊:Head and Neck-Journal for the Sciences and Specialties of the Head and Neck
影响因子:2.2
doi:10.1002/hed.25516
Zeng, Binghui; Liao, Junkun; Zhang, Hanqing; Fu, Sha; Chen, Weixiong; Pan, Guokai; Li, Qunxing; Chen, Weiliang; Ferrone, Soldano; Wu, Binghao; Sun, Sheng; Hu, Jiali; Ahn, Michael Ho-Young; Lin, Zhaoyu; Yu, Dongsheng; Ou, Zhanpeng; Wang, Xinhui; Mo, Fengbo; Huang, Nasi; Hamilton, James A; Li, Jinsong; Fan, Song