Lanean...

Phenotyping Rare CFTR Mutations Reveal Functional Expression Defects Restored by TRIKAFTA(TM)

The rare Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, c.1826A > G (H609R) and c.3067_3072delATAGTG (I1023_V1024del), are associated with severe lung disease. Despite the existence of four CFTR targeted therapies, none have been approved for individuals with these mutation...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Pers Med
Egile Nagusiak: Laselva, Onofrio, Ardelean, Maria C., Bear, Christine E.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2021
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8071105/
https://ncbi.nlm.nih.gov/pubmed/33920764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jpm11040301
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!