Article
An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.
Human genetics - 1 Dec 1991
Siddique Z, McPhaden A R, Lappin D F, Whaley K
Abstract excerpt
Restriction fragment length polymorphism analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (G----T) at nucleotide 8863 in the C1-inhibitor gene. This destroys the 5' donor splice site recognition motif of the sixth intron....
Topics
- Angioedema
- Base Sequence
- Complement C1 Inactivator Proteins
- Humans
- Introns
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- RNA Splicing