The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics

Autor: Isla J. Campbell, Paul Dickinson, David J. Porteous, Fiona Kilanowski, Sheila Webb, J. R. Dorin, Hugo R. de Jonge, Martin S. Taylor, Eric W.F.W. Alton, Rob Willemsen, Stephen N. Smith, Ray Farley

Publikováno v: Dickinson, P, Smith, S N, Webb, S, Kilanowski, F M, Campbell, I J, Taylor, M S, Porteous, D J, Willemsen, R, de Jonge, H R, Farley, R, Alton, E W F W & Dorin, J R 2002, ' The severe G480C cystic fibrosis mutation, when replicated in the mouse, demonstrates mistrafficking, normal survival and organ-specific bioelectrics ', Human Molecular Genetics, vol. 11, no. 3, pp. 243-51 . https://doi.org/10.1093/hmg/11.3.243
Human Molecular Genetics, 11, 243-251. Oxford University Press

The majority of cystic fibrosis patients produce a mutant form of CFTR (DeltaF508) which has been shown to be mislocalized in both humans and mice. G480C, another clinically 'severe' mutation, has also been demonstrated to be defective in its intrace

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https://pubmed.ncbi.nlm.nih.gov/11823443