Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function

Melissa V. Chan, Melissa A. Hayman, Suthesh Sivapalaratnam, Marilena Crescente, Harriet E. Allan, Matthew L. Edin, Darryl C. Zeldin, Ginger L. Milne, Jonathan Stephens, Daniel Greene, Moghees Hanif, Valerie B. O'Donnell, Liang Dong, Michael G. Malkowski, Claire Lentaigne, Katherine Wedderburn, Matthew Stubbs, Kate Downes, Willem H. Ouwehand, Ernest TurroDaniel P. Hart, Kathleen Freson, Michael A. Laffan, Timothy D. Warner

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Biochemistry, Genetics and Molecular Biology