Cystic fibrosis genetics: from molecular understanding to clinical application
Cystic fibrosis genetics: from molecular understanding to clinical application
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
Key Points
Investigation of disease-causing variants such as F508del is resolving the mechanisms underlying cystic fibrosis transmembrane conductance regulator (CFTR) folding and will inform rational design of compounds to correct the folding of mutant CFTR.
New tissue culture methods will facilitate the evaluation of molecular targeted thera...
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Full title
Cystic fibrosis genetics: from molecular understanding to clinical application
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4364438
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4364438
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ISSN
1471-0056
E-ISSN
1471-0064
DOI
10.1038/nrg3849