A novel genetic variant in PTGS1 affects N‐glycosylation of cyclooxygenase‐1 causing a dominant‐negative effect on platelet function and bleeding diathesis

PTGS1 gene variations associated with bleeding and platelet dysfunction

(2020) Verónica Palma-Barqueros et al.   PLATELETS

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

(2017) José M. Bastida et al.   HAEMATOLOGICA

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

(2016) M. E. de la Morena-Barrio et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Elucidating the role of carbohydrate determinants in regulating hemostasis: insights and opportunities

(2013) R. J. S. Preston et al.   BLOOD

Thrombotic complications in patients with PMM2-CDG

(2013) M. Linssen et al.   MOLECULAR GENETICS AND METABOLISM

Platelet receptors and signaling in the dynamics of thrombus formation

(2009) J. Rivera et al.   HAEMATOLOGICA