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    Hum Genet. 1991 Dec;88(2):231-2.

    An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema.

    Siddique Z, McPhaden AR, Lappin DF, Whaley K.

    University Department of Pathology, Western Infirmary, Glasgow, UK.

    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.

    PMID: 1684567 [PubMed - indexed for MEDLINE]

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