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- W2019934475 abstract "The sixth, seventh and eighth exons of both alleles of the C1-inhibitor gene were nucleotide sequenced in 52 individuals from 20 kindred with type I hereditary angio-oedema (HAE), 5 kindred with type II HAE and 10 control kindred. Four previously unreported nucleotide which had no disease specificity were identified in addition to a sequencing error in the eighth exon. In addition, a T-->C mutation at position 8770 (resulting in a Phe-->Leu substitution at position 291) was identified on the abnormal allele of the affected members of a family with type I HAE due to an exon 6 donor splice site mutation. The significance of this mutation is not known. Disease-specific mutations were identified in 100% of type II HAE kindred and in 20% of type I HAE kindred. The relevance of these findings to the evolving understanding of the molecular genetics of HAE is discussed." @default.
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- W2019934475 date "1995-01-01" @default.
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- W2019934475 title "Characterisation of Nucleotide Sequence Variants and Disease-Specific Mutations Involving the 3’ End of the C1-inhibitor Gene in Hereditary Angio-Oedema" @default.
- W2019934475 doi "https://doi.org/10.1159/000154267" @default.
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