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Two mutations in the thiazide-sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report
BACKGROUND: Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. PATIENT AND METHODS: This paper describes the case of a 27-year-old woman admitted wit...
Autores principales: | Gug, Cristina, Mihaescu, Adelina, Mozos, Ioana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5784745/ https://www.ncbi.nlm.nih.gov/pubmed/29403282 http://dx.doi.org/10.2147/TCRM.S150483 |
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