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).
A dysfunctional C1inhibitor protein with a new reactive center mutation (Arg-444-->Leu) / D. Frangi, K.S. Aulak, M. Cicardi, R.A. Harrison, A.E. Davis. - In: FEBS LETTERS. - ISSN 0014-5793. - 301:1(1992 Apr), pp. 34-36.
A dysfunctional C1inhibitor protein with a new reactive center mutation (Arg-444-->Leu)
M. Cicardi;
1992
Abstract
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).
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