title: A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.
abstract: RFLP analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a C1-inhibitor gene mutation responsible for type I hereditary angio-oedema (HAE). A single base deletion (C-16698) from the eighth exon of the C1-inhibitor gene alters the reading frame of the exon and generates a premature translation termination codon. This represents the first report of this form of C1-inhibitor gene mutation in type I HAE.
authors.affiliation: University 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: D
authors.initials: D
authors.lastname: McCluskey
authors.forename: K
authors.initials: K
authors.lastname: Whaley
mesh_terms: D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data
chemical_list: D003174:Complement C1 Inactivator Proteins