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    FEBS Lett. 1990 Jun 18;266(1-2):13-6.

    Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

    Aulak KS, Cicardi M, Harrison RA.

    MRC Molecular Immunopathology Unit, MRC Centre, Cambridge, UK.

    A new reactive-centre P1 residue mutation (444Arg----Ser), has been identified in a dysfunctional C1 inhibitor protein, C1 inhibitor(Ba), contained in a type II hereditary angioedema plasma. This substitution is compatible with a point mutation of the 444Arg codon (CGC----AGC), and represents the first non-histidine, non-cysteine P1 residue mutant described for C1 inhibitor.

    PMID: 2365061 [PubMed - indexed for MEDLINE]

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