Ontology highlight
ABSTRACT:
SUBMITTER: Southern KW
PROVIDER: S-EPMC6513216 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Southern Kevin W KW Patel Sanjay S Sinha Ian P IP Nevitt Sarah J SJ
The Cochrane database of systematic reviews 20180802
<h4>Background</h4>Cystic fibrosis (CF) is a common life-shortening condition caused by mutation in the gene that codes for that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which functions as a salt transporter. F508del, the most common CFTR mutation that causes CF, is found in up to 80% to 90% of people with CF. In people with this mutation, a full length of protein is transcribed, but recognised as misfolded by the cell and degraded before reaching the cel ...[more]