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

PURPOSES: This study was conducted to identify the frequent mutations from reported Chinese Gitelman syndrome (GS) patients, to predict the three-dimensional structure change of human Na–Cl co-transporter (hNCC), and to test the activity of these mutations and some novel mutations in vitro and in vi...

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Detalles Bibliográficos
Autores principales: Jiang, Lanping, Peng, Xiaoyan, Zhao, Bingbin, Zhang, Lei, Xu, Lubin, Li, Xuemei, Nie, Min, Chen, Limeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8859957/
https://www.ncbi.nlm.nih.gov/pubmed/34860177
http://dx.doi.org/10.1530/EC-21-0262

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