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A point mutation in the C1-inhibitor gene causes type I hereditary angiooedema.

Authors
  • Siddique, Z
  • McPhaden, A R
  • Fothergill, J E
  • Whaley, K
Type
Published Article
Journal
Human heredity
Publication Date
Jan 01, 1993
Volume
43
Issue
3
Pages
155–158
Identifiers
PMID: 8330878
Source
Medline
License
Unknown

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.

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