The use of ivacaftor in an adult with severe lung disease due to cystic fibrosis (ΔF508/G551D)

Genotype analysis for ΔF508, G551D and R

Genotype analysis for ΔF508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease

✍ Dr. Ann Duthie; Derek G. Doherty; Carolyn Williams; Robert Scott-Jupp; J. O. War 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 613 KB

Genetic factors have been implicated in the pathogenesis of liver disease in cystic fibrosis. To investigate whether liver disease is associated with particular mutations of the defective gene in cystic fibrosis, we have determined the frequencies of three mutations -AF508, G551D and R553X-in 111 ch