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    Hum Hered. 1992;42(4):231-4.

    A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema.

    Siddique Z, McPhaden AR, McCluskey D, Whaley K.

    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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