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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...

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Detalles Bibliográficos
Autores principales: Gug, Cristina, Mihaescu, Adelina, Mozos, Ioana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
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