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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:EMBO J
Prif Awduron: Sheppard, D N, Ostedgaard, L S, Winter, M C, Welsh, M J
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 1995
Pynciau:
Research Article
Mynediad Ar-lein: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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