Article
Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.
British journal of haematology - 1 Dec 1994
Simsek S, Noris P, Lozano M, Pico M, von dem Borne A E, Ribera A, Gallardo D
Abstract excerpt
Molecular genetic analysis has been performed on a patient with Bernard-Soulier syndrome (BSS). The patient had characteristically giant platelets and was deficient in the glycoprotein (GP) Ib/IX/V complex, the von Willebrand factor (vWf) receptor on platelets. Previous studies with monoclonal an...
Topics
- Adult
- Alleles
- Base Sequence
- Bernard-Soulier Syndrome
- Cysteine
- Female
- Humans
- Male
- Molecular Sequence Data
- Oligonucleotide Probes
- Pedigree
- Platelet Membrane Glycoproteins
- Point Mutation
- Polymerase Chain Reaction
- Restriction Mapping