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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2021
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Materias: | |
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 |