Article
Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema.
Behring Institute Mitteilungen - 1 Dec 1993
Davis A E, Bissler J J, Cicardi M
Abstract excerpt
Mutations in one C1 INH allele result in the autosomal dominant disease, hereditary angioedema. The plasma antigenic level of C1 INH in this disease may be low, normal, or high, while the functional level is uniformly depressed. Investigation of the mutations in the C1 INH gene reveal several key...
Topics
- Amino Acid Sequence
- Angioedema
- Binding Sites
- Complement C1 Inactivator Proteins
- Exons
- Humans
- Molecular Sequence Data
- Multigene Family
- Mutation
- Point Mutation
- Sequence Deletion
- Sequence Homology, Amino Acid