Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis

por Li, Lulu, Jia, Chao, Tang, Yue, Kong, Yuanyuan, Xia, Yaofang, Ma, Li
Publicado 2021

Case report: A Chinese patient with glutathione synthetase deficiency and a novel glutathione synthase mutation

por Wu, Xiaojiao, Jiao, Jiancheng, Xia, Yaofang, Yan, Xiaotong, Liu, Zehao, Cao, Yanyan, Ma, Li
Publicado 2023