Article
Biochemical and molecular basis of Bernard-Soulier syndrome: a review.
Nouvelle revue francaise d'hematologie - 1 Jan 1995
de la Salle C, Lanza F, Cazenave J P
Abstract excerpt
Bernard-Soulier syndrome (BSS) is a rare hereditary recessive autosomal bleeding disorder characterized by a prolonged bleeding time, giant platelets, thrombocytopenia, normal platelet aggregation in response to ADP and no agglutination in response to ristocetin. This disease is due to absence or...
Topics
- Bernard-Soulier Syndrome
- Humans
- Leucine
- Mutation
- Platelet Membrane Glycoproteins
- Protein Conformation
- Receptors, Cell Surface
- Recombinant Proteins
- Repetitive Sequences, Nucleic Acid