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