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Article

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Dec 2010

de Prada Merino Ana, Bütschi Florence Niel, Bouchardy Isabelle, Beckmann Jacques S, Morris Michael A, Hafen Gaudenz M, Fellmann Florence

Abstract excerpt

Since the beginning of population screening for CF carriers, it has become apparent that complex CFTR alleles are not uncommon. Deciphering their impact in disease pathogenesis remains a challenge for both clinicians and researchers. We report the observation of a new complex allele p.[R74W+R1070W+D1270N] found in trans with a type 1 mutation and associated with clinical diagnosis of cystic fibrosis in a one...

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Source

Identifiers

PMID: 20880762
DOI: 10.1016/j.jcf.2010.08.014

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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