Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression

Blood Transfus. 2017 Sep;15(5):487-488. doi: 10.2450/2016.0055-16. Epub 2016 Jul 12.

Authors

Viviana Daidone¹, Loredana Bury², Marta Milan³, Eva Galletta³, Paolo Gresele², Alessandra Casonato³

Affiliations

¹ Department of Cardiologic, Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy.
² Department of Medicine, University of Perugia Medical School, Perugia, Italy.
³ Department of Medicine, University of Padua Medical School, Padua, Italy.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Blood Platelets / metabolism
Blood Platelets / pathology*
Female
Hemostasis
Humans
Infant
Integrin alpha2 / genetics*
Male
Pedigree
Phenotype
Platelet Aggregation
Sequence Deletion*
Thrombasthenia / blood
Thrombasthenia / complications
Thrombasthenia / genetics*
Thrombasthenia / pathology

Substances

ITGA2B protein, human
Integrin alpha2