Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

doi:10.1016/0014-5793(90)81494-9

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Article

Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma.

FEBS letters - 18 Jun 1990

Aulak K S, Cicardi M, Harrison R A

Abstract excerpt

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...

Topics

Amino Acid Sequence
Angioedema
Base Sequence
Complement C1 Inactivator Proteins
Humans
Molecular Sequence Data
Mutation
Peptide Fragments
Trypsin

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