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Home > Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: still room for improvement

Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: still room for improvement

Resource Type

CF Research News

Authors

Nele Laudus, Marie-Pierre Audrézet, Emmanuelle Girodon, Michael A Morris, Dragica Radojkovic, Caroline Raynal, Manuela Seia, Alexandra Štambergová, Heike Torkler, Raina Yamamoto, Elisabeth M C Dequeker

References

J Cyst Fibros. 2020 Nov;19(6):969-974. doi: 10.1016/j.jcf.2020.05.005. Epub 2020 Jun 3

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Theme

Care of patients with CF [3]
Diagnosis/Screening [4]

Keywords

CFTR-related disorders [5]
External quality assessment [6]
P.Arg117His [7]

Date

Thursday, November 19, 2020

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [8]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/laboratory-reporting-clinical-spectrum-cftr-parg117his-still-room

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-20-00051R1_FINAL_Dequeker_250422.pdf [2] https://pubmed.ncbi.nlm.nih.gov/32505523/ [3] https://www.ecfs.eu/research-article-themes/care-patients-cf [4] https://www.ecfs.eu/research-article-themes/diagnosisscreening [5] https://www.ecfs.eu/research-article-keywords/cftr-related-disorders-0 [6] https://www.ecfs.eu/research-article-keywords/external-quality-assessment [7] https://www.ecfs.eu/research-article-keywords/parg117his [8] https://www.ecfs.eu/resource-guideline-type/other-guidelines