Comprehensive functional characterisation of a novel ANO6variant in a new patient with Scott Syndrome

Autor: Montague, Samantha J., Price, Joshua, Pennycott, Katherine, Pavey, Natasha J., Martin, Eleyna M., Thirlwell, Isaac, Kemble, Samuel, Monteiro, Catarina, Redmond-Motteram, Lily, Lawson, Natalie, Reynolds, Katherine, Fratter, Carl, Bignell, Patricia, Groenheide, Anouk, Huskens, Dana, de Laat, Bas, Pike, Jeremy A., Poulter, Natalie S., Thomas, Steven G., Lowe, Gillian C., Lancashire, Jonathan, Harrison, Paul, Morgan, Neil V.
Zdroj: Journal of Thrombosis and Haemostasis; 20240101, Issue: Preprints
Abstrakt: Scott syndrome is a mild platelet-type bleeding disorder, first described in 1979, with only 3 unrelated families identified through defective phosphatidylserine (PS) exposure and confirmed by sequencing. The syndrome is distinguished by impaired surface exposure of procoagulant PS on platelets after stimulation. To date, platelet function and thrombin generation in this condition has not been extensively characterised.
Databáze: Supplemental Index