Article
Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
American journal of human genetics - 1 Aug 1996
Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M
Abstract excerpt
A complete mutational scan of the gene coding for the serpin C1 inhibitor, comprising all eight exons and adjacent intron sequences and 550 bp preceding the transcription start site, was rapidly accomplished in 36 unrelated angioedema patients by using fluorescence-assisted mismatch analysis (FAM...
Topics
- Angioedema
- Base Sequence
- Chromosomes, Human, Pair 11
- Complement C1 Inactivator Proteins
- Female
- Genetic Diseases, Inborn
- Genetic Testing
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Peptide Chain Termination, Translational
- Point Mutation
- Polymerase Chain Reaction
- Promoter Regions, Genetic