A new case of heterozygous variant of the GP1BB gene responsible for macrothrombocytopenia

Br J Haematol. 2019 Jul;186(1):157-159. doi: 10.1111/bjh.15739. Epub 2019 Jan 4.

Affiliations

¹ Centre de Traitement de l'Hémophilie, CHU de Nantes - Hôtel Dieu, Nantes, Cedex 1, France.
² Service de Génétique Médicale, CHU de Nantes - Hôtel Dieu, Nantes, Cedex 1, France.
³ Service d'Hématologie Biologique, CHU de Nantes - Hôtel Dieu, Nantes, Cedex 1, France.

PMID: 30609015
DOI: 10.1111/bjh.15739

No abstract available

Keywords: platelet disorders; platelet function; platelet genetic diseases; platelet glycoprotein; thrombocytopenia.

Publication types

Case Reports
Letter

MeSH terms

Genetic Variation
Heterozygote
Humans
Platelet Glycoprotein GPIb-IX Complex / genetics*
Thrombocytopenia / genetics*

Substances

Platelet Glycoprotein GPIb-IX Complex
adhesion receptor