Article
Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome.
Thrombosis and haemostasis - 1 Sept 1994
Simsek S, Admiraal L G, Modderman P W, van der Schoot C E, von dem Borne A E
Abstract excerpt
Bernard-Soulier Syndrome (BSS) is a hereditary bleeding disorder which is caused by the absence or the dysfunction of the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the major receptor for von Willebrand factor (vWf). BSS is characterized by the presence of giant platelets that show a red...
Topics
- Adult
- Alleles
- Amino Acid Sequence
- Base Composition
- Base Sequence
- Bernard-Soulier Syndrome
- DNA Mutational Analysis
- Female
- Genes
- Homozygote
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Platelet Membrane Glycoproteins
- Polymerase Chain Reaction
- Receptors, Cell Surface
- Sequence Alignment