Article
Fibrinogen Bern I: substitution gamma 337 Asn-->Lys is responsible for defective fibrin monomer polymerization.
Blood - 1 Oct 1993
Steinmann C, Reber P, Jungo M, Lämmle B, Heinemann G, Wermuth B, Furlan M
Abstract excerpt
An inherited fibrinogen variant, fibrinogen Bern I, was isolated from plasma of an asymptomatic woman. Routine coagulation studies showed prolonged thrombin and reptilase clotting times. Fibrinogen concentration was diminished when determined by a functional assay, but was normal by the heat prec...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Asparagine
- Base Sequence
- DNA
- DNA Primers
- Electrophoresis, Gel, Two-Dimensional
- Electrophoresis, Polyacrylamide Gel
- Female
- Fibrin
- Fibrinogen
- Fibrinogens, Abnormal
- Fibrinopeptide A
- Fibrinopeptide B
- Genetic Variation
- Humans
- Kinetics