[PDF][PDF] Cystic fibrosis: how do CFTR mutations cause cystic fibrosis?

JJ Wine - Current Biology, 1995 - cell.com
Current Biology, 1995cell.com
How do CFTR mutations cause cystic fibrosis? Page 1 JEFFREY J. WINE CYSTIC
FIBROSIS How do CFTR mutations cause cystic fibrosis? The key defect in cystic fibrosis is
loss of chloride conductance, but mutations of the cystic fibrosis gene product, the CFTR,
have multiple effects on cell physiology; new results help to reconcile these facts. Two major
discoveries have transformed our understanding of cystic fibrosis, a genetic disease in
which thick secretions accumulate in airways, digestive organs and sperm duct. The first …
Abstract
The key defect in cystic fibrosis is loss of chloride conductance, but mutations of the cystic fibrosis gene product, the CFTR, have multiple effects on cell physiology; new results help to reconcile these facts.
cell.com