Article
A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome.
Journal of thrombosis and haemostasis : JTH - 1 Jan 2025
Vayne Caroline, Roux Maguelonne, Gruel Yves, Poggi Marjorie, Pouplard Claire, Peiretti Franck, Trégouët David-Alexandre, Nurden Paquita, Alessi Marie-Christine
Abstract excerpt
BACKGROUND: Inherited platelet diseases are bleeding disorders characterized by either defects in platelet count or platelet function, the latter being less common and very heterogeneous. Numerous gene variants associated with abnormal receptors, granules, and signaling pathways have been reported. Despite significant advancements in our understanding, many patients still lack a precise diagnosis. OBJECTIVES: To...
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