An association study on contrasting cystic fibrosis endophenotypes recognizes <it>KRT8 </it>but not <it>KRT18 </it>as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion

• Autori principali: Becker Tim (Autore), Hedtfeld Silke (Autore), Stanke Frauke (Autore), Tümmler Burkhard (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2011-05-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking. We have investigated the two neighbo...