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Article

Novel Human NKCC1 Mutations Cause Defects in Goblet Cell Mucus Secretion and Chronic Inflammation.

Cellular and molecular gastroenterology and hepatology - 1 Jan 2020

Koumangoye Rainelli, Omer Salma, Kabeer Mustafa H, Delpire Eric

Abstract excerpt

BACKGROUND & AIMS: Infections resulting from intestinal yeast and bacteria affect a large number of patients with deficits in absorptive or secretory epithelial transport mechanisms. The basolateral Na+-K+-2Cl- cotransporter (NKCC1) has been implicated in intestinal epithelial fluid secretion. Two patients with deleterious heterozygous (NKCC1-DFX, DFX for Asp-Phe-stop codon) or homozygous (Kilquist) mutations in...

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Source

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Identifiers

PMID: 31655271
DOI: 10.1016/j.jcmgh.2019.10.006
PMCID: PMC6957845

Genes

SLC12A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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