CFTR modulator therapy for cystic fibrosis caused by the rare c.3700A>G mutation

BACKGROUND: The c.3700A>G mutation, a rare cystic fibrosis (CF)-causing CFTR mutation found mainly in the Middle East, produces full-length transcript encoding a missense mutation (I1234V-CFTR), and a cryptic splice site that deletes 6 amino acids in nucleotide binding domain 2 (I1234del-CFTR). M...

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Detaylı Bibliyografya
Yayımlandı:J Cyst Fibros
Asıl Yazarlar: Phuan, Puay-Wah, Haggie, Peter M., Tan, Joseph A., Rivera, Amber A., Finkbeiner, Walter E., Nielson, Dennis W., Thomas, Merlin M., Janahi, Ibrahim A., Verkman, Alan S.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7854863/
https://ncbi.nlm.nih.gov/pubmed/32674984
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2020.07.003
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