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The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR

✍ Scribed by Li, Canhui; Ramjeesingh, Mohabir; Reyes, Evangelica; Jensen, Tim; Chang, Xiubao; Rommens, Johanna M.; Bear, Christine E.


Book ID
109915652
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
646 KB
Volume
3
Category
Article
ISSN
1061-4036

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The occurrence of various non-ΔF508 CFTR
✍ Margit Nemeti; John P. Johnson; Zoltan Papp; Elaine Louie 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 227 KB

Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To identify other common mutations in CF families from Hun