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Home > STOP Codon mutations are associated with more severe disease from childhood in people with cystic fibrosis

STOP Codon mutations are associated with more severe disease from childhood in people with cystic fibrosis

Resource Type

CF Research News

Authors

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

References

J Cyst Fibros. 2023 Jul 6:S1569-1993(23)00819-6. doi: 10.1016/j.jcf.2023.06.005.

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Keywords

MeSH: DO008550 [3]
Cystic fibrosis transmembrane conductance regulator (MeSH: DO19005) [4]
Premature termination codon (MeSH: DO:18389) [5]

Date

Thursday, July 6, 2023

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [6]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/stop-codon-mutations-are-associated-more-severe-disease-childhood

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-23-00147R1_FINAL_Sermet-Gaudelus_270823_0.pdf [2] https://pubmed.ncbi.nlm.nih.gov/37422433/ [3] https://www.ecfs.eu/research-article-keywords/mesh-do008550 [4] https://www.ecfs.eu/research-article-keywords/cystic-fibrosis-transmembrane-conductance-regulator-mesh-do19005 [5] https://www.ecfs.eu/research-article-keywords/premature-termination-codon-mesh-do18389 [6] https://www.ecfs.eu/resource-guideline-type/other-guidelines