title: A point mutation in the C1-inhibitor gene causes type I hereditary angiooedema.
abstract: The polymerase chain reaction and nucleotide sequencing have been used to characterise a single base substitution (CAG-->TAG at nucleotide 16842 in the C1-inhibitor gene in the affected members of a single family with type I C1-inhibitor deficiency. This mutation creates the TAG translation termination codon, thereby truncating the C1-inhibitor C-terminus by 17 amino acids. The effects of the mutation are discussed.
authors.affiliation: Department of Pathology, Western Infirmary, Glasgow, UK.
authors.forename: Z
authors.initials: Z
authors.lastname: Siddique
authors.forename: A R
authors.initials: AR
authors.lastname: McPhaden
authors.forename: J E
authors.initials: JE
authors.lastname: Fothergill
authors.forename: K
authors.initials: K
authors.lastname: Whaley
mesh_terms: D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000737:chemistry / Q000235:genetics*; D003198:Computer Simulation; D005260:Female; D006801:Humans; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017434:Protein Structure, Tertiary
chemical_list: D003174:Complement C1 Inactivator Proteins