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Article

Functional analysis of F508del CFTR in native human colon.

Biochimica et biophysica acta - 1 Nov 2010

van Barneveld Andrea, Stanke Frauke, Tamm Stephanie, Siebert Benny, Brandes Gudrun, Derichs Nico, Ballmann Manfred, Junge Sibylle, Tümmler Burkhard

Abstract excerpt

The major cystic fibrosis mutation F508del has been classified by experiments in animal and cell culture models as a temperature-sensitive mutant defective in protein folding, processing and trafficking, but literature data on F508del CFTR maturation and function in human tissue are inconsistent. In the present study the molecular pathology of F508del CFTR was characterized in freshly excised rectal mucosa by...

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Source

Identifiers

PMID: 20696241
DOI: 10.1016/j.bbadis.2010.08.001

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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