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Article

A mutation in the Na-K-2Cl cotransporter-1 leads to changes in cellular metabolism.

Journal of cellular physiology - 1 Oct 2020

Omer Salma, Koumangoye Rainelli, Delpire Eric

Abstract excerpt

The Na-K-Cl cotransporter-1 (NKCC1), by mediating the electroneutral transport of Na+ , K+ , and Cl- plays an important role in cell volume regulation, epithelial transport, and the control of neuronal excitability. Recently, we reported the first known human mutation in SLC12A2, the gene encoding NKCC1. The 17-year old patient suffers from multiorgan failure. Laboratory tests conducted on muscle and liver...

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Identifiers

PMID: 32039487
DOI: 10.1002/jcp.29623
PMCID: PMC7416433

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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