Summary
Restriction 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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Siddique, Z., McPhaden, A.R., Lappin, D.F. et al. An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema. Hum Genet 88, 231–232 (1991). https://doi.org/10.1007/BF00206079
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DOI: https://doi.org/10.1007/BF00206079