Browsing by Author "Ponce, Jenny"

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      Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia 

      García Castaño, Alejandro; Madariaga Domínguez, Leire ORCID; Antón Gamero, Montserrat; Mejia, Natalia; Ponce, Jenny; Gómez Conde, Sara; Pérez de Nanclares, Gustavo; De la Hoz, Ana Belén; Martínez Salazar, Rosa; Saso Jiménez, Laura; Martínez de la Piscina Martín, Idoia; Urrutia, Inés; Velasco, Olaia; Aguayo Calcena, Aníbal; Castaño González, Luis Antonio ORCID; Gaztambide Sáenz, María Sonia (Public Library Science, 2020-09-30)
      The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining ...