A point mutation in exon 7 of the C1-inhibitor gene causing type I hereditary angioedema
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- Ono, H., Kawaguchi, H., Ishii, N. et al. Hum Genet (1996) 98: 452. doi:10.1007/s004390050238
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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 reponsible for type I hereditary angioedema in a studied pedigree.