title: A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema.
abstract: The polymerase chain reaction and nucleotide sequence analysis have been used to characterize a point mutation in the seventh exon of one allele of the C1-inhibitor gene in a family with type I hereditary angioedema. A single base change (C-->T) at nucleotide 1482 in C1-inhibitor converted the codon for Gln-339 to a premature translation termination codon, TAG. Family studies suggest that this mutation is responsible for type I hereditary angioedema in a studied pedigree.
authors.affiliation: Department of Dermatology, Yokohama City University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ono
authors.forename: H
authors.initials: H
authors.lastname: Kawaguchi
authors.forename: N
authors.initials: N
authors.lastname: Ishii
authors.forename: H
authors.initials: H
authors.lastname: Nakajima
mesh_terms: D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D005260:Female; D005973:Glutamine; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012016:Reference Values
chemical_list: D003174:Complement C1 Inactivator Proteins; D017931:DNA Primers; D005973:Glutamine