Work

Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 ‘reactive centre’ (Arg444→His) mutation

Year: 1988

Type: article

Abstract: Simple rapid procedures for identification and analysis of dysfunctional C1-inhibitor proteins mutated at the reactive-centre P1 residue have been developed and used to define structurally a C1-inhibitor protein, C1-inhibitor(At), isolated from an individual with hereditary angio-oedema. The observed mutation, Arg444----His, is compatible with a single base change in the codon used for Arg444 in the native protein.

Source: Biochemical Journal

DOI: 10.1042/bj2530615

Authors: K S Aulak, P A Pemberton, F S Rosen, R W Carrell, P J Lachmann, R A Harrison

Institution: University of Cambridge

Language: English

Topic: Coagulation, Bradykinin, Polyphosphates, and Angioedema

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Wellcome Trust