TY  - JOUR
AU  - García-Castaño, Alejandro
AU  - Madariaga, Leire
AU  - Antón-Gamero, Montserrat
AU  - Mejia, Natalia
AU  - Ponce, Jenny
AU  - Gómez-Conde, Sara
AU  - Pérez de Nanclares, Gustavo
AU  - De la Hoz, Ana Belén
AU  - Martínez, Rosa
AU  - Saso, Laura
AU  - Martínez de LaPiscina, Idoia
AU  - Urrutia, Inés
AU  - Velasco, Olaia
AU  - Aguayo, Aníbal
AU  - Castaño, Luis
AU  - Gaztambide, Sonia
PY  - 2020
DO  - 10.1371/journal.pone.0239965
UR  - http://hdl.handle.net/10668/16352
T2  - PloS one
AB  - 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...
LA  - en
KW  - Adolescent
KW  - Adult
KW  - Cation Transport Proteins
KW  - Codon, Nonsense
KW  - Female
KW  - Heterozygote
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Magnesium
KW  - Male
KW  - Polymorphism, Single Nucleotide
KW  - Renal Tubular Transport, Inborn Errors
KW  - Sequence Analysis, DNA
TI  - Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
TY  - research article
VL  - 15
ER  -