CFTR protein

Fibrosi cistica 2025: stato dell’arte e novità

Maschio M, Grazian F, Traunero A, Ghirardo S, Amaddeo A.

2025/7 — pag. 430-440 — DOI

Cystic Fibrosis is caused by the mutations in the CFTR chloride channel protein and is still one of the most common fatal genetic disease worldwide. It is a multisystem disease but, to date, most of its morbidity and mortality is due to muco-obstruct...

Il test del sudore

V. Kiren, L. Travan, E. Barth

2004/9 — pag. 573-577

Fibrosi cistica: dal gene alla pratica

L. Giglio, D. Faraguna

1999/1 — pag. 21-25

The identification of CF gene prompted several advances in the understanding of the disease, as well as practical improvements in the diagnosis. New perspectives are also open with respect to screening programs and therapeutic implications. At pres...