Article
Four novel cystic fibrosis mutations in splice junction sequences affecting the CFTR nucleotide binding folds.
Genomics - 1 Mar 1993
Dörk T, Wulbrand U, Tümmler B
Abstract excerpt
Single cases of the four novel splice site mutations 1525-1 G-->A (intron 9), 3601-2 A-->G (intron 18), 3850-3 T-->G (intron 19), and 4374 + 1 G-->T (intron 23) were detected in the CFTR gene of cystic fibrosis patients of Indo-Iranian, Turkish, Polish, and German descent. The nucleotide substitu...
Topics
- Adolescent
- Adult
- Base Sequence
- Binding Sites
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Heterozygote
- Homozygote
- Humans
- Membrane Proteins
- Molecular Sequence Data
- Mutation
- Nucleotides
- RNA Splicing