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Frequent SLC12A3 mutations in Chinese Gitelman syndrome patients: structure and function disorder

Jiang, LP; Peng, XY; Zhao, BB; Zhang, L; Xu, LB; Li, XM; Nie, M; Chen, LM

Chen, LM (通讯作者),Chinese Acad Med Sci & Peking Union Med Coll, Peking Union Med Coll Hosp, Dept Nephrol, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China.;Nie, M (通讯作者),Chinese Acad Med Sci & Peking Union Med Coll, Dept Endocrinol, Natl Hlth & Family Planning Commiss, Beijing, Peoples R China.;Nie, M (通讯作者),Chinese Acad Med Sci & Peking Union Med Coll, Key Lab Endocrinol, Natl Hlth & Family Planning Commiss, Beijing, Peoples R China.

ENDOCRINE CONNECTIONS, 2022; 11 (1):

Abstract

Purposes This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimen......

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