Unknown

Dataset Information

0

Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis.


ABSTRACT:

SUBMITTER: Southern KW 

PROVIDER: S-EPMC6513216 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

altmetric image

Publications

Correctors (specific therapies for class II CFTR mutations) for cystic fibrosis.

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]

Similar Datasets

| S-EPMC6353056 | biostudies-literature
| S-EPMC3419814 | biostudies-literature
| S-EPMC4582929 | biostudies-literature
| S-EPMC6862496 | biostudies-literature
| S-EPMC4312569 | biostudies-literature
| S-EPMC4983674 | biostudies-literature
| S-EPMC8110311 | biostudies-literature