Article
Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site.
Blood - 15 Aug 1994
Hovinga J K, Schaller J, Stricker H, Wuillemin W A, Furlan M, Lämmle B
Abstract excerpt
The dysfunctional coagulation factor XII (FXII) Locarno was purified from 2 L of the proposita's plasma. Studies to identify the molecular defect responsible for the lack of amidolytic and proteolytic activity of this FXII variant were performed. Amino acid sequence analysis of peptides obtained...
Topics
- Amino Acid Sequence
- Amino Acids
- Arginine
- Binding Sites
- Electrophoresis, Polyacrylamide Gel
- Factor XII
- Female
- Genetic Variation
- Humans
- Kallikreins
- Kinetics
- Molecular Sequence Data