New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

Despite recent progress in our understanding of renal magnesium (Mg(2+)) handling, the molecular mechanisms accounting for transepithelial Mg(2+) transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg(2+) channel TRPM6 (transient receptor potential melastatin...

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Autores principales: Lainez, Sergio, Schlingmann, Karl Peter, van der Wijst, Jenny, Dworniczak, Bernd, van Zeeland, Femke, Konrad, Martin, Bindels, René J, Hoenderop, Joost G
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2014
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953905/
https://ncbi.nlm.nih.gov/pubmed/23942199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.178
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