Genotype analysis for ΔF508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease
Ann Duthie, Derek G. Doherty, Carolyn Williams, Robert Scott‐Jupp, J. O. Warner, M. Stuart Tanner, Robert Williamson, Alex P. Mowat – 1 April 1992 – 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 – ΔF508, G551D and R553X – in 111 children and young adults with cystic fibrosis by analysis of genomic DNA segments amplified by the polymerase chain reaction.