Article
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX.
Blood - 15 Aug 1994
Clemetson J M, Kyrle P A, Brenner B, Clemetson K J
Abstract excerpt
We describe a new variant of Bernard-Soulier syndrome. The patient (W.K.) showed the classic bleeding symptoms together with absence of platelet agglutination to restocetin plus von Willebrand factor, whereas aggregation to ADP, collagen, and arachidonic acid was normal. Platelets were markedly l...
Topics
- Adult
- Amino Acid Sequence
- Asparagine
- Base Sequence
- Bernard-Soulier Syndrome
- Blood Platelets
- Blotting, Western
- DNA
- DNA Primers
- Female
- Genetic Variation
- Humans
- Leucine
- Male
- Molecular Sequence Data
- Pedigree
- Platelet Aggregation
- Platelet Membrane Glycoproteins