Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

Premature termination codons (PTCs) in cystic fibrosis transmembrane conductance regulator (CFTR) gene result in nonfunctional CFTR protein and are the proximate cause of ~11% of CF causing alleles. Aminoglycosides and other novel agents are known to induce translational readthrough of PTCs, a poten...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Cyst Fibros
Egile Nagusiak: Mutyam, Venkateshwar, Libby, Emily Falk, Peng, Ning, Hadjiliadis, Denis, Bonk, Michael, Solomon, George M., Rowe, Steven M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2016
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241185/
https://ncbi.nlm.nih.gov/pubmed/27707539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2016.09.005
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak