Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining Mg2+ homeostasis. Among these CNNMs, CNNM2 is expressed in the basolateral m...

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Pubblicato in:PLoS One
Autori principali: García-Castaño, Alejandro, Madariaga, Leire, Antón-Gamero, Montserrat, Mejia, Natalia, Ponce, Jenny, Gómez-Conde, Sara, Pérez de Nanclares, Gustavo, De la Hoz, Ana Belén, Martínez, Rosa, Saso, Laura, Martínez de LaPiscina, Idoia, Urrutia, Inés, Velasco, Olaia, Aguayo, Aníbal, Castaño, Luis, Gaztambide, Sonia
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7527205/
https://ncbi.nlm.nih.gov/pubmed/32997713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0239965
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