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Home > In-depth examination of the CFTR gene finds more disease-causing genetic changes than conventional clinical genetic testing

In-depth examination of the CFTR gene finds more disease-causing genetic changes than conventional clinical genetic testing

Resource Type

CF Research News

Authors

Molly B Sheridan, Melis A Aksit, Kymberleigh Pagel, Kurt Hetrick, Hannah Shultz-Lutwyche, Ben Myers, Kati J Buckingham, Rhonda G Pace, Hua Ling, Elizabeth Pugh, Wanda K O’Neal, Michael J Bamshad, Ronald L. Gibson, Michael R Knowles, Scott M Blackman,
Garry R Cutting, Karen S Raraigh

References

J Cyst Fibros. 2024 May 10:S1569-1993(24)00062-6. doi: 10.1016/j.jcf.2024.04.018.

Document

PDF icon CF Research News Article [1]

Link

Scientific Abstract [2]

Keywords

CFTR [3]
genetic testing [4]
Genome sequencing [5]
Whole-gene sequencing [6]

Date

Friday, May 10, 2024

Featured resource article

Yes

Resource - Guideline Type

Other Guidelines [7]
Source URL:https://www.ecfs.eu/resource-article/cf-research-news/depth-examination-cftr-gene-finds-more-disease-causing-genetic

Links
[1] https://www.ecfs.eu/sites/default/files/cf-research-article-files/JCf-D-23-00516R1_FINAL_Raraigh_070724.pdf [2] https://pubmed.ncbi.nlm.nih.gov/38734509/ [3] https://www.ecfs.eu/research-article-keywords/cftr [4] https://www.ecfs.eu/research-article-keywords/genetic-testing [5] https://www.ecfs.eu/research-article-keywords/genome-sequencing [6] https://www.ecfs.eu/research-article-keywords/whole-gene-sequencing [7] https://www.ecfs.eu/resource-guideline-type/other-guidelines