Article
A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations.
Clinical immunology (Orlando, Fla.) - 1 Feb 2001
Bowen B, Hawk J J, Sibunka S, Hovick S, Weiler J M
Abstract excerpt
C1 esterase inhibitor (C1INH) is an important regulatory protein of the classical pathway of complement. Mutations in the gene for this protein cause the autosomal dominant disorder hereditary angioedema (HAE). Approximately 85% of patients with HAE have a Type I defect, characterized by a diminished level of antigenic and functional C1INH. Patients with Type II defects have sufficient protein, but one allele...
Topics
- Amino Acid Substitution
- Angioedema
- Complement C1 Inactivator Proteins
- DNA Mutational Analysis
- Exons
- Humans
- Introns
- Mutagenesis, Insertional
- Mutation
- Mutation, Missense
- Point Mutation
- RNA Splicing