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Article

CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine.

European journal of human genetics : EJHG - 1 Jun 2013

Kolbe Ernst-Wolfgang, Tamm Stephanie, Hedtfeld Silke, Becker Tim, Tümmler Burkhard, Stanke Frauke

Abstract excerpt

The manifestation of the monogenic disease cystic fibrosis results from the cystic fibrosis transmembrane conductance regulator (CFTR)-mediated basic defect defined as an altered chloride transport. An association study using contrasting endophenotypes was conducted with 17 markers to allow fine-mapping of a previously reported association signal within the CLCA gene cluster. Markers were analyzed for association...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23073314
DOI: 10.1038/ejhg.2012.234
PMCID: PMC3658199

Genes

CLCA4
CFTR

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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