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Biochem J. 1988 Jul 15;253(2):615-8.

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

Author information

  • 1MIP Unit, MRC Centre, Cambridge, U.K.

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.

PMID:
3178731
[PubMed - indexed for MEDLINE]
PMCID:
PMC1149343
Free PMC Article
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