Article
R560S: A class II CFTR mutation that is not rescued by current modulators.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2019
Awatade Nikhil T, Ramalho Sofia, Silva Iris A L, Felício Verónica, Botelho Hugo M, de Poel Eyleen, Vonk Annelotte, Beekman Jeffrey M, Farinha Carlos M, Amaral Margarida D
Abstract excerpt
BACKGROUND: New therapies modulating defective CFTR have started to hit the clinic and others are in trial or under development. The endeavour of drug discovery for CFTR protein rescue is however difficult one since over 2000 mutations have been reported. For most of these, especially the rare ones, the associated defects, the respective functional class and their responsiveness to available modulators are still...
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