New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia

Br J Haematol. 2019 Mar;184(5):855-858. doi: 10.1111/bjh.15176. Epub 2018 Mar 12.

Authors

Silvia Ferrari¹, Anna M Lombardi¹, Irene Cortella¹, Maria A Businaro¹, Antonella Bertomoro¹, Irene Di Pasquale¹, Fabrizio Fabris¹

Affiliation

¹ Department of Medicine, University of Padua Medical School, Padua, Italy.

PMID: 29527674
DOI: 10.1111/bjh.15176

No abstract available

Keywords: GP1BB; glycoprotein; new variation; platelets; thrombocytopenia.

Publication types

Letter

MeSH terms

Bernard-Soulier Syndrome / genetics*
Female
Heterozygote*
Humans
Male
Mutation*
Platelet Glycoprotein GPIb-IX Complex / genetics*

Substances

Platelet Glycoprotein GPIb-IX Complex
adhesion receptor