Article
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
British journal of haematology - 1 Dec 1998
Noris P, Arbustini E, Spedini P, Belletti S, Balduini C L
Abstract excerpt
We describe a new variant of Bernard-Soulier syndrome characterized by almost normal amounts of GPIb and severely reduced GPIX and GPV. Despite surface expression, GPIbalpha failed to support ristocetin-induced platelet agglutination and to bind two conformation-dependent monoclonal antibodies, s...
Topics
- Amino Acid Substitution
- Bernard-Soulier Syndrome
- Bleeding Time
- DNA
- Deamino Arginine Vasopressin
- Female
- Hemostatics
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Platelet Glycoprotein GPIb-IX Complex