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Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome
AIM: Mutations in the SLC12A3 gene have been reported to cause Gitelman syndrome (GS), characterized by hypokalemic metabolic alkalosis. The aim of this research is to investigate the genetic mutations and clinical features of patients with clinical suspicion of GS. METHODS: Six families were enroll...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Dove
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10184854/ https://www.ncbi.nlm.nih.gov/pubmed/37197138 http://dx.doi.org/10.2147/IJGM.S408631 |