Article
Genotype analysis for delta F508, G551D and R553X mutations in children and young adults with cystic fibrosis with and without chronic liver disease.
Hepatology (Baltimore, Md.) - 1 Apr 1992
Duthie A, Doherty D G, Williams C, Scott-Jupp R, Warner J O, Tanner M S, Williamson R, Mowat A P
Abstract excerpt
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--delta F508, G551D and R553X--in 111 children and young adults with cystic fibrosis by analysis of genomic DNA segments amplified by the polymerase...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chronic Disease
- Cystic Fibrosis
- DNA Probes
- Female
- Genotype
- Humans