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Article

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

PloS one - 1 Jan 2020

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

Abstract excerpt

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 membrane of the kidney tubules where it is involved in Mg2+ reabsorption. A total of four patients, two of them with...

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Identifiers

PMID: 32997713
DOI: 10.1371/journal.pone.0239965
PMCID: PMC7527205

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