Zahedi, R

Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. [electronic resource] - The Journal of clinical investigation Mar 1995 - 1299-305 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.

0021-9738

10.1172/JCI117780 doi


Angioedema--classification
Base Sequence
Complement C1 Inactivator Proteins--genetics
Endopeptidases--metabolism
Genes, Dominant--genetics
Heterozygote
Humans
Lupus Erythematosus, Systemic--complications
Molecular Sequence Data
Mutagenesis, Site-Directed
Pedigree
Point Mutation
Protein Binding
Protein Denaturation
Sequence Analysis, DNA
Trypsin--metabolism