A gain of function variant in RGS18 candidate for a familial mild bleeding syndrome - Vayne, Caroline; Roux, Maguelonne; Gruel, Yves; Poggi, Marjorie; Pouplard, Claire; Peiretti, Franck; Trégouët, David-Alexandre; Nurden, Paquita; Alessi, Marie-Christine (Journal of thrombosis and haemostasis, 2025)
Keywords: Blood Platelet Disorders - genetics; blood platelets; Blood Platelets - metabolism; Exome Sequencing; Gain of Function Mutation; Genetic Predisposition to Disease; GTP-binding proteins; hemorrhage; Hemorrhage - genetics; Heredity; Heterozygote; Humans; Life Sciences; Pedigree; Phenotype; Platelet Aggregation; Platelet Function Tests; RGS Proteins - genetics; RGS Proteins - metabolism; Santé publique et épidémiologie; Signal Transduction; Syndrome; blood platelets; exome sequencing; GTP-binding proteins; platelet function tests; hemorrhage; GTP-Binding Proteins; Exome Sequencing; Hemorrhage; Blood Platelets; Platelet Function Tests