An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema

  title={An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema},
  author={Z. Siddique and A. R. Mcphaden and David Francis Lappin and Keith Whaley},
  journal={Human Genetics},
SummaryRestriction 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. Family studies suggest that the mutation is responsible for type I hereditary angio-oedema in a studied kindred. 
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