Article
Molecular defects in hereditary angioneurotic edema.
Proceedings of the Association of American Physicians - 1 Mar 1997
Bissler J J, Aulak K S, Donaldson V H, Rosen F S, Cicardi M, Harrison R A, Davis A E
Abstract excerpt
Thirty-eight previously unreported, unrelated patients with hereditary angioneurotic edema were studied, and each was found to have a single mutation in the C1 inhibitor gene. On the basis of serine protease inhibitor crystal structure, these and published mutations affect critical domains in the reactive center loop, alpha-helices A, B, C, E, and F, and beta-sheets A and C. Almost all mutations, other than in...
Topics
- Angioedema
- Base Sequence
- Binding Sites
- Complement C1 Inactivator Proteins
- DNA Mutational Analysis
- DNA Primers
- Exons
- Humans
- Introns
- Models, Molecular
- Molecular Structure
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Protein Conformation
- Protein Structure, Secondary