CFTR bearing variant p.Phe312del exhibits function inconsistent with phenotype and negligible response to ivacaftor
Author:
Funder
National Institutes of Health
Cystic Fibrosis Foundation
Cystic Fibrosis Foundation Therapeutics
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/148841/files/pdf
Reference59 articles.
1. Cystic fibrosis genetics: from molecular understanding to clinical application;Cutting;Nat Rev Genet,2015
2. The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
3. Altered chloride ion channel kinetics associated with the ΔF508 cystic fibrosis mutation
4. The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells.
5. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
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