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    FEBS Lett. 1992 Apr 13;301(1):34-6.

    A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu).

    Frangi D, Aulak KS, Cicardi M, Harrison RA, Davis AE 3rd.

    Clinica Medica V, Universita di Milano, Ospedale S. Paolo, Italy.

    A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. The mutation was defined at the level of the protein (by sequence analysis of the Pseudomonas aeruginosa elastase-derived reactive center peptide), and the mRNA (CGC-->CTC) (by sequence analysis of PCR-amplified DNA).

    PMID: 1451784 [PubMed - indexed for MEDLINE]

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