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Home > Two mutations in one CFTR gene copy can influence each other and thereby disease characteristics

Two mutations in one CFTR gene copy can influence each other and thereby disease characteristics

Resource Type

CF Research News

Authors

Senne Cuyx, Sofia S Ramalho, Isabelle Callebaut, Harry Cuppens, Arthur Kmit, Kaline Arnauts, Marc Ferrante, Catherine Verfaillie, Marjolein Ensinck, Marianne S Carlon, Mieke Boon, Marijke Proesmans, Lieven Dupont, Kris De Boeck, Carlos M Farinha,
François Vermeulen, Anabela S Ramalho

References

J Cyst Fibros. 2022 Jul;21(4):644-651. doi: 10.1016/j.jcf.2022.05.013. Epub 2022 Jun 9.

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Theme

Care of patients with CF [3]
CFTR/Basic Science [4]

Keywords

CFTR [5]
Complex allele [6]
F508C [7]
FIS assay [8]
Organoids [9]
S1251N [10]

Date

Thursday, July 21, 2022

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [11]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/two-mutations-one-cftr-gene-copy-can-influence-each-other-and

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-22-00055R1_FINAL_Cuyx_231022.pdf [2] https://pubmed.ncbi.nlm.nih.gov/35690578/ [3] https://www.ecfs.eu/research-article-themes/care-patients-cf [4] https://www.ecfs.eu/research-article-themes/cftrbasic-science [5] https://www.ecfs.eu/research-article-keywords/cftr [6] https://www.ecfs.eu/research-article-keywords/complex-allele [7] https://www.ecfs.eu/research-article-keywords/f508c [8] https://www.ecfs.eu/research-article-keywords/fis-assay [9] https://www.ecfs.eu/research-article-keywords/organoids [10] https://www.ecfs.eu/research-article-keywords/s1251n [11] https://www.ecfs.eu/resource-guideline-type/other-guidelines