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

doi:10.1093/hmg/11.3.243

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

Human molecular genetics - 1 Feb 2002

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

Abstract excerpt

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 intracellular processing, but when allowed to traffic in Xenopus oocytes showed similar channel characteristics to that of wild-type CFTR. We have replicated the G480C...

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

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