Article
A cluster of mutations within a short triplet repeat in the C1 inhibitor gene.
Proceedings of the National Academy of Sciences of the United States of America - 27 Sept 1994
Bissler J J, Cicardi M, Donaldson V H, Gatenby P A, Rosen F S, Sheffer A L, Davis A E
Abstract excerpt
Mutations in the C1 inhibitor gene that result in low functional levels of C1 inhibitor protein cause hereditary angioneurotic edema. This disease is characterized by episodic edema leading to considerable morbidity and death. Among 60 unreported kindred with the disease, four patients were disco...
Topics
- Amino Acid Sequence
- Angioedema
- Base Sequence
- Complement C1 Inactivator Proteins
- DNA
- DNA Primers
- DNA Transposable Elements
- Humans
- Leukocytes
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid
- Sequence Deletion