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Article

Expression levels of FAS are regulated through an evolutionary conserved element in intron 2, which modulates cystic fibrosis disease severity.

Genes and immunity - 1 Dec 2008

Kumar V, Becker T, Jansen S, van Barneveld A, Boztug K, Wölfl S, Tümmler B, Stanke F

Abstract excerpt

We have analyzed frequent naturally occurring variants in the autogene FAS in two independent cystic fibrosis (CF) patient populations. Analysis of FAS expression levels from intestinal epithelial biopsies from 16 unrelated F508del-CFTR homozygotes showed a correlation between FAS intron 2 SNP rs...

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Source

Identifiers

PMID: 18685642
DOI: 10.1038/gene.2008.63

Genes

FAS
CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18685642-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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