Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

by Xiulan Lu, Xiulan Lu, Weijian Chen, Weijian Chen, Liping Li, Xinyuan Zhu, Caizhi Huang, Saijun Liu, Yongjia Yang, Yaowang Zhao, Yaowang Zhao
Published 2019-02-01

Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9

by Chuangye Li, Yongjia Yang, Yu Zheng, Fang Shen, Li Liu, Yanfang Li, Liping Li, Yaowang Zhao
Published 2020-02-01