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]
Producer: 19950413Description: 1299-305 p. digitalISSN:- 0021-9738
- 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
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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.
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