Article
Molecular genetics of C1 inhibitor.
Immunobiology - 1 Aug 1998
Tosi M
Abstract excerpt
More than 100 different C1 inhibitor gene mutations have been described in hereditary angioedema (HAE) patients. Sixty-nine mutations have been reported in patients with the quantitative C1 inhibitor defect (type 1 HAE) in two recent large-scale studies. These changes were found distributed over...
Topics
- Amino Acid Sequence
- Amino Acid Substitution
- Angioedema
- Animals
- Codon, Nonsense
- Codon, Terminator
- Complement C1 Inactivator Proteins
- Frameshift Mutation
- Gene Expression Regulation
- Humans
- Mice
- Mice, Transgenic
- Molecular Sequence Data
- Mutation
- Point Mutation
- Promoter Regions, Genetic
- RNA Splicing
- Sequence Deletion