Article
Combined variants in factor VIII and prostaglandin synthase-1 amplify hemorrhage severity across three generations of descendants.
Journal of thrombosis and haemostasis : JTH - 1 Nov 2016
Nance D, Campbell R A, Rowley J W, Downie J M, Jorde L B, Kahr W H, Mereby S A, Tolley N D, Zimmerman G A, Weyrich A S, Rondina M T
Abstract excerpt
Essentials Co-existent damaging variants are likely to cause more severe bleeding and may go undiagnosed. We determined pathogenic variants in a three-generational pedigree with excessive bleeding. Bleeding occurred with concurrent variants in prostaglandin synthase-1 (PTGS-1) and factor VIII. The PTGS-1 variant was associated with functional defects in the arachidonic acid pathway. SUMMARY: Background Inherited...
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