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Cystic fibrosis genetics: from molecular understanding to clinical application

Cystic fibrosis genetics: from molecular understanding to clinical application

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4364438

Cystic fibrosis genetics: from molecular understanding to clinical application

About this item

Full title

Cystic fibrosis genetics: from molecular understanding to clinical application

Author / Creator

Publisher

London: Nature Publishing Group UK

Journal title

Nature reviews. Genetics, 2015-01, Vol.16 (1), p.45-56

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

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...

Alternative Titles

Full title

Cystic fibrosis genetics: from molecular understanding to clinical application

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

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

Other Identifiers

ISSN

1471-0056

E-ISSN

1471-0064

DOI

10.1038/nrg3849

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