Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency.

Variability in the severity of cystic fibrosis (CF) is in part due to specific mutations in the CF transmembrane conductance regulator (CFTR) gene. To understand better how mutations in CFTR disrupt Cl- channel function and to learn about the relationship between genotype and phenotype, we studied t...

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Publié dans:	EMBO J
Auteurs principaux:	Sheppard, D N, Ostedgaard, L S, Winter, M C, Welsh, M J
Format:	Artigo
Langue:	Inglês
Publié:	Nature Publishing Group 1995
Sujets:	Research Article
Accès en ligne:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC398160/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7534226/ https://ncbi.nlm.nih.govhttps://doi.org/10.1002/j.1460-2075.1995.tb07069.x
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