Article
Identical intragenic microsatellite haplotype found in cystic fibrosis chromosomes bearing mutation G551D in Irish, English, Scottish, Breton and Czech patients.
Human heredity - 1 Jan 2000
Cashman S M, Patino A, Martinez A, Garcia-Delgado M, Miedzybrodzka Z, Schwarz M, Shrimpton A, Ferec C, Raguenes O, Macek M
Abstract excerpt
Mutation G551D of exon 11 of the cystic fibrosis transmembrane conductance regulator gene is one of the most common mutations in patients of European origin. In order to test the hypothesis that the mutation is identical by descent in these patients, we have studied haplotypes for the three intra...
Topics
- Cystic Fibrosis
- Czech Republic
- DNA Mutational Analysis
- DNA, Satellite
- England
- France
- Haplotypes
- Humans
- Ireland
- Mutation
- Scotland