Article
Type II hereditary angio-oedema associated with two mutations in one allele of the C1-inhibitor gene around the reactive-site coding region.
Human heredity - 1 Jan 1992
Siddique Z, McPhaden A R, Whaley K
Abstract excerpt
The polymerase chain reaction and nucleotide sequence analysis have been used to characterise two point mutations in the eighth exon of one allele of the C1-inhibitor gene in a kindred with type II hereditary angio-oedema (HAE). The mutations comprise a G to A substitution at C1-inhibitor gene nu...
Topics
- Alleles
- Angioedema
- Base Sequence
- Complement C1 Inactivator Proteins
- DNA, Single-Stranded
- Exons
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction