Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene.

Afshar-Kharghan, V

Bernard-Soulier syndrome in a patient doubly heterozygous for two frameshift mutations in the glycoprotein ib alpha gene. [electronic resource] - British journal of haematology Sep 2000 - 919-24 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0007-1048

10.1046/j.1365-2141.2000.02261.x doi


Bernard-Soulier Syndrome--blood
Blood Platelets--chemistry
Female
Flow Cytometry
Frameshift Mutation
Gene Deletion
Heterozygote
Humans
Immunoblotting--methods
Infant
Mutagenesis, Site-Directed
Platelet Function Tests
Platelet Glycoprotein GPIb-IX Complex--analysis
Sequence Analysis, DNA