Article
Prevalence of cystic fibrosis mutations in the East German population.
Human mutation - 1 Jan 1992
Coutelle C, Brückner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I
Abstract excerpt
A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected, the delta F508 mutation in exon 10 of the CFTR gene is the major gene alteration causing CF in our patients....
Topics
- Cystic Fibrosis
- DNA
- Female
- Genotype
- Germany, East
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Prevalence
- Sex Characteristics