Jing Li

Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family

Zhangxue Hu, Si-zhong Zhang, Yuan Yang, 2011, International journal of urology : official journal of the Japanese Urological Association.

Two novel mutations affecting the same splice site of PKD1 correlate with different phenotypes in ADPKD

Shan Liu, Lin Zou, Chao-wen Yu, 2014, Renal failure.

A novel indel variant in LDLR responsible for familial hypercholesterolemia in a Chinese family

Yujie Deng, Yangang Wang, Xu Hou, 2017, PloS one.

Three novel CYP17A1 gene mutations (A82D, R125X, and C442R) found in combined 17α-hydroxylase/17,20-lyase deficiency.

Jing Li, Yun-jing Zhao, Yue-Ping Wang, 2011, Metabolism: clinical and experimental.

Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

Lin Zou, Yongxin Ma, Yunqiang Liu, 2011, BMC Medical Genetics.

A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis

Jingmin Sun, Jing Li, Haiyan Guo, 2022, Acta Haematologica.

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Tingting Yu, Jian Wang, Yongguo Yu, 2013, PloS one.

A Family with Liddle Syndrome Caused by a Novel Stop-Gain Mutation in the γ Subunit of Epithelial Sodium Channels

Jing Li, Conghui Cao, Liping Guo, 2022, Nephron.