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Article

Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis.

Journal of pediatric gastroenterology and nutrition - 1 Mar 2010

van der Doef H P J, Slieker M G, Staab D, Alizadeh B Z, Seia M, Colombo C, van der Ent C K, Nickel R, Witt H, Houwen R H J

Abstract excerpt

In Cftr-/- mice that mostly die because of intestinal obstruction, intestinal expression of Clca3 is decreased, whereas upregulation of Clca3 results in amelioration of intestinal disease. The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20179644
DOI: 10.1097/MPG.0b013e3181afce6c

Genes

CLCA1
CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20179644-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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