Article
Mutation analysis of Western Australian families affected by cystic fibrosis.
The Medical journal of Australia - 2 Jan 1995
Goldblatt J, Creegan R, Edkins T, Landau L I, Ryan G, Walpole I R
Abstract excerpt
OBJECTIVE: To document the results of mutation analysis on 160 individuals with cystic fibrosis and 31 obligate carriers of the cystic fibrosis gene in 191 Western Australian families to facilitate accurate genetic counselling. METHODS: We tested for 17 mutations of the cystic fibrosis gene by ei...
Topics
- Adult
- Child
- Cystic Fibrosis
- DNA Mutational Analysis
- Female
- Gene Frequency
- Genetic Counseling
- Genetic Testing
- Heterozygote
- Humans
- Immunoblotting
- Male
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Western Australia