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Article

Consequences of partial duplications of the human CFTR gene on cf diagnosis: mutations or ectopic variations.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2013

El-Seedy Ayman, Pasquet Marie-Claude, Bienvenu Thiery, Bieth Eric, Audrezet Marie-Pierre, Kitzis Alain, Ladeveze Véronique

Abstract excerpt

CFTR exon 10 and its flanking regions are duplicated in the human genome. These duplications present mutations compared to the normal exon 10 sequence. Due to the polymorphic sequence of the 3' intron 9 sequence, it may appear difficult to sequence exon 10 and some mutations described in this exon could, in fact, be variations observed in an ectopic duplicated sequence. In our previous work we described a...

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Identifiers

PMID: 23261175
DOI: 10.1016/j.jcf.2012.11.006

Genes

CFTR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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