Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.

doi:10.1016/j.jcf.2023.06.005

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Article

Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Nov 2023

Orenti Annalisa, Pranke Iwona, Faucon Caroline, Varilh Jessica, Hatton Aurelie, Golec Anita, Dehillotte Clemence, Durieu Isabelle, Reix Philippe, Burgel Pierre-Régis, Grenet Dominique, Tasset Céline, Gachelin Elsa, Perisson Caroline, Lepissier Agathe, Dreano Elise, Tondelier Danielle, Chevalier Benoit, Weiss Laurence, Kiefer Sébastien, Laurans Muriel, Chiron Raphael, Lemonnier Lydie, Marguet Christophe, Jung Andreas, Edelman Aleksander, Kerem Bat-Sheva, Girodon Emmanuelle, Taulan-Cadars Magali, Hinzpeter Alexandre, Kerem Eitan, Naehrlich Lutz, Sermet-Gaudelus Isabelle

Abstract excerpt

RATIONALE: Limited information is available on the clinical status of people with Cystic Fibrosis (pwCF) carrying 2 nonsense mutations (PTC/PTC). The main objective of this study was to compare disease severity between pwCF PTC/PTC, compound heterozygous for F508del and PTC (F508del/PTC) and homozygous for F508del (F508del+/+). METHODS: Based on the European CF Society Patient Registry clinical data of pwCF...

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PMID: 37422433
DOI: 10.1016/j.jcf.2023.06.005

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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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