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.

Identification of a new P1 residuemutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in atype II hereditary angioedema plasma / K.S. Aulak, M. Cicardi, R.A. Harrison. - In: FEBS LETTERS. - ISSN 0014-5793. - 266:1-2(1990), pp. 13-16.

Identification of a new P1 residuemutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in atype II hereditary angioedema plasma

M. Cicardi
Secondo
;
1990

Abstract

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.
Serpin ; C1 inhibitor ; Reactive-centre mutation ; Dysfunctional protein ; Plasma proteinase inhibitor; Hereditary angioedema
Settore MED/09 - Medicina Interna
1990
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/192950
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