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Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome
Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis in conjunction with significant hypomagnesemia and hypocalciuria. The GS phenotype is caused by mutations in the solute carrier family 12, member 3 (SLC12A3) gene that encodes the thiazide-sens...
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| Main Authors: | , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3283182/ https://ncbi.nlm.nih.gov/pubmed/22009145 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.189 |
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