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A Novel Human Mutation in the SLC9A1 Gene Results in Abolition of Na(+)/H(+) Exchanger Activity
The SLC9A1 gene, the Na(+)/H(+) exchanger isoform 1 is the principal plasma membrane Na(+)/H(+) exchanger of mammalian cells and functions by exchanging one intracellular proton for one extracellular sodium. The human protein is 815 amino acids in length. Five hundred N-terminal amino acids make up...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Public Library of Science
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356549/ https://www.ncbi.nlm.nih.gov/pubmed/25760855 http://dx.doi.org/10.1371/journal.pone.0119453 |