Article
Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).
Blood - 1 Nov 1992
Morishita E, Saito M, Kumabashiri I, Asakura H, Matsuda T, Yamaguchi K
Abstract excerpt
A congenitally dysfunctional form of prothrombin, Prothrombin Himi, shows reduced fibrinogen clotting activity, although it retains full hydrolytic activity toward synthetic substrates. To elucidate the structural abnormality of the variant prothrombin, we first performed genetic analysis of dysprothrombin. Polymerase chain reaction amplification of the exons 8 through 14 of the proband and her family members'...
Topics
- Amino Acid Sequence
- Arginine
- Base Sequence
- DNA
- Exons
- Female
- Genetic Carrier Screening
- Histidine
- Humans
- Leukocytes
- Male
- Methionine
