A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

Primary hypomagnesemia is a heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg(2+)) wasting, resulting in tetany, cardiac arrhythmias, and seizures. The kidney plays an essential role in maintaining blood Mg(2+) levels, with a prominent function for the Mg(2+)-transp...

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Autori principali: Glaudemans, Bob, van der Wijst, Jenny, Scola, Rosana H., Lorenzoni, Paulo J., Heister, Angelien, van der Kemp, AnneMiete W., Knoers, Nine V., Hoenderop, Joost G., Bindels, René J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2009
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2662556/
https://ncbi.nlm.nih.gov/pubmed/19307729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI36948
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