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Home > Response to CFTR modulators of the rare CFTR variants L383S, I507del, L1065P and R1066H

Response to CFTR modulators of the rare CFTR variants L383S, I507del, L1065P and R1066H

Resource Type

CF Research News

Authors

Jessica Conti, Dora Angyal, Karina Kleinfelder, Roberta Valeria Latorre, Martina Calicchia, Alessia Farinazzo, Luca Rodella, Francesco Tomba, Arianna Massella, Luca Frulloni, Giovanni Taccetti, Vito Terlizzi, Anny Leung, Tessa A Groeneweg,
Marcel J C Bijvelds, Paola Melotti, Claudio Sorio

References

J Cyst Fibros. 2025 Feb 19:S1569-1993(25)00059-1. doi: 10.1016/j.jcf.2025.02.008.

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Keywords

CFTR variants [3]
Bicarbonate secretion [4]
Personalized medicine [5]
Rectal organoids [6]
Theratyping [7]
Ussing chamber [8]

Date

Wednesday, February 19, 2025

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [9]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/response-cftr-modulators-rare-cftr-variants-l383s-i507del-l1065p

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-24-00252R1_FINAL_Sorio_090325%20%28002%29.pdf [2] https://pubmed.ncbi.nlm.nih.gov/39979195/ [3] https://www.ecfs.eu/research-article-keywords/cftr-variants [4] https://www.ecfs.eu/research-article-keywords/bicarbonate-secretion [5] https://www.ecfs.eu/research-article-keywords/personalized-medicine [6] https://www.ecfs.eu/research-article-keywords/rectal-organoids [7] https://www.ecfs.eu/research-article-keywords/theratyping [8] https://www.ecfs.eu/research-article-keywords/ussing-chamber [9] https://www.ecfs.eu/resource-guideline-type/other-guidelines