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Article

CFTR protein analysis of splice site mutation 2789+5 G-A.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2008

van Barneveld Andrea, Stanke Frauke, Claass Andreas, Ballmann Manfred, Tümmler Burkhard

Abstract excerpt

Ex vivo biochemical analysis of rectal biopsies of a carrier of the mild 2789+5 G-A CFTR frameshift splice site mutation revealed mutant truncated CFTR of expected size and an imbalance of more core-glycosylated and less mature full-length CFTR. This first immunoblot analysis of a non-F508del CFTR mutant protein derived from human tissue demonstrates that splice site mutations should not only be investigated at...

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Source

Identifiers

PMID: 17707141
DOI: 10.1016/j.jcf.2007.07.007

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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