Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
PTGS1基因中发现一种纯合隐性变异,导致先天性血小板功能障碍,类似于阿司匹林样缺陷。
期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2019.235895
Chan, Melissa V; Hayman, Melissa A; Sivapalaratnam, Suthesh; Crescente, Marilena; Allan, Harriet E; Edin, Matthew L; Zeldin, Darryl C; Milne, Ginger L; Stephens, Jonathan; Greene, Daniel; Hanif, Moghees; O'Donnell, Valerie B; Dong, Liang; Malkowski, Michael G; Lentaigne, Claire; Wedderburn, Katherine; Stubbs, Matthew; Downes, Kate; Ouwehand, Willem H; Turro, Ernest; BioResource, Nihr; Hart, Daniel P; Freson, Kathleen; Laffan, Michael A; Warner, Timothy D