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Article

Multi-physiopathological consequences of the c.1392G>T CFTR mutation revealed by clinical and cellular investigations.

Biochemistry and cell biology = Biochimie et biologie cellulaire - 1 Feb 2015

Farhat Raed, El-Seedy Ayman, El-Moussaoui Kamal, Pasquet Marie-Claude, Adolphe Catherine, Bieth Eric, Languepin Jeanne, Sermet-Gaudelus Isabelle, Kitzis Alain, Ladevèze Véronique

Abstract excerpt

This study combines a clinical approach and multiple level cellular analyses to determine the physiopathological consequences of the c.1392G>T (p.Lys464Asn) CFTR exon 10 mutation, detected in a CF patient with a frameshift deletion in trans and a TG(11)T(5) in cis. Minigene experiment, with different TG(m)T(n) alleles, and nasal cell mRNA extracts were used to study the impact of c.1392G>T on splicing in both in...

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PMID: 25403292
DOI: 10.1139/bcb-2014-0042

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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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