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Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

Resource Type

CF Research News

Authors

Katherine Keenan; Annie Dupuis; Katherine Griffin; Carlo Castellani; Elizabeth Tullis; Tanja Gonska

References

J Cyst Fibros. 2018 Sep 29. pii: S1569-1993(18)30800-2. doi: 10.1016/j.jcf.2018.09.002

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Keywords

CFTR-related disease [3]
Cystic fibrosis newborn screening [4]
Diagnosis [5]
P.Arg117His [6]

Date

Saturday, September 29, 2018

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [7]
Source URL: https://www.ecfs.eu/resource-article/cf-research-news/phenotypic-spectrum-patients-cystic-fibrosis-and-cystic-fibrosis

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-18-00167R1_Gonska_FINAL_131018.pdf
[2] https://www.ncbi.nlm.nih.gov/pubmed/?term=Phenotypic%20spectrum%20of%20patients%20with%20cystic%20fibrosis%20and%20cystic%20fibrosis-related%20disease%20carrying%20p.Arg117His
[3] https://www.ecfs.eu/research-article-keywords/cftr-related-disease
[4] https://www.ecfs.eu/research-article-keywords/cystic-fibrosis-newborn-screening
[5] https://www.ecfs.eu/research-article-keywords/diagnosis
[6] https://www.ecfs.eu/research-article-keywords/parg117his
[7] https://www.ecfs.eu/resource-guideline-type/other-guidelines