New SLC12A3 disease causative mutation of Gitelman’s syndrome

Gitelman’s syndrome (GS) is a salt-losing tubulopathy with an autosomal recessive inheritance caused by mutations of SLC12A3, which encodes for the thiazide-sensitive NaCl cotransporter. In this study we report a new mutation of SLC12A3 found in two brothers affected by GS. Hypokalemia, hypocalciuri...

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Detalles Bibliográficos
Autores principales: Grillone, Teresa, Menniti, Miranda, Bombardiere, Francesco, Vismara, Marco Flavio Michele, Belviso, Stefania, Fabiani, Fernanda, Perrotti, Nicola, Iuliano, Rodolfo, Colao, Emma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099602/
https://www.ncbi.nlm.nih.gov/pubmed/27872838
http://dx.doi.org/10.5527/wjn.v5.i6.551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099602/
https://www.ncbi.nlm.nih.gov/pubmed/27872838
http://dx.doi.org/10.5527/wjn.v5.i6.551

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