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A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.
University Department of Pathology, Western Infirmary, Glasgow, UK.
RFLP analysis, the polymerase chain reaction and nucleotide sequencing have been used to characterise a C1-inhibitor gene mutation responsible for type I hereditary angio-oedema (HAE). A single base deletion (C-16698) from the eighth exon of the C1-inhibitor gene alters the reading frame of the exon and generates a premature translation termination codon. This represents the first report of this form of C1-inhibitor gene mutation in type I HAE.
PMID: 1339401 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema.
Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M.
Am J Hum Genet. 1996 Aug; 59(2):308-19.
[Am J Hum Genet. 1996]
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Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function.
Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M.
J Clin Invest. 1995 Jan; 95(1):350-9.
[J Clin Invest. 1995]