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

@article{Siddique2004AnRS,
  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},
  year={2004},
  volume={88},
  pages={231-232}
}
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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A novel RNA splice site mutation in the C1 inhibitor gene of a patient with type I hereditary angioedema.
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Hereditary angioedema with C1 Inhibitor deficiency (C1-INH-HAE) is caused by a constellation of variants of the SERPING1 gene, and some variants have been characterized as benign/likely benign/of uncertain significance.
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