A form of this disease particularly prevalent in the United Kingdom is caused by the G551D mutation and can be treated with Ivacaftor.
A form of this disease particularly prevalent in the United Kingdom is caused by the G551D mutation and can be treated with Ivacaftor. Male sufferers of this disease are typically infertile because this disease results in the congenital absence of the vas deferens. In patients with this disease, a missing phenylalanine molecule caused by a deletion at the 508th residue results in a misfolded CFTR protein, which fails to conduct chloride ions across the cell membrane. This disease causes a blockage of ducts in the pancreas and patients suffering from this disease have salty sweat. For 10 points, name this disease in which an accumulation of thick mucus causes frequent lung infections.
A form of this disease particularly prevalent in the United Kingdom is caused by the G551D mutation and can be treated with Ivacaftor.
cystic fibrosis [or CF; or mucoviscidosis]