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Home > Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters

Clinical presentation and basic defect of the CFTR genotype p.Phe508del / p.Arg117His in a mother and her monozygous twin daughters

Resource Type

CF Research News

Authors

Christiane Lex, Rebecca Minso, Nadine Alfeis, Hendrik Rosewich, Sylvia Schucht, Burkhard Tümmler

References

J Cyst Fibros. 2021 Sep 3;S1569-1993(21)01359-X. doi: 10.1016/j.jcf.2021.08.018.

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Keywords

Intestinal current measurement [3]
Nasal potential difference [4]
Twin research [5]

Date

Friday, September 3, 2021

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [6]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/clinical-presentation-and-basic-defect-cftr-genotype-pphe508del

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCF-D-21-00111R1_FINAL_Tummler_200921.pdf [2] https://pubmed.ncbi.nlm.nih.gov/34489188/ [3] https://www.ecfs.eu/research-article-keywords/intestinal-current-measurement [4] https://www.ecfs.eu/research-article-keywords/nasal-potential-difference [5] https://www.ecfs.eu/research-article-keywords/twin-research [6] https://www.ecfs.eu/resource-guideline-type/other-guidelines