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American Society of Hematology, Blood, 11(126), p. e19-e29, 2015

DOI: 10.1182/blood-2015-02-624551

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Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

Journal article published in 2015 by Jennifer E. Huffman ORCID, Paul S. de Vries, Ps De Vries, Alanna C. Morrison, Maria Sabater-Lleal ORCID, Tim Kacprowski ORCID, Paul L. Auer, Jennifer A. Brody, Daniel I. Chasman, Ming-Huei Chen ORCID, Xiuqing Guo, Li-An Lin, Riccardo E. Marioni, Martina Müller-Nurasyid, Lisa R. Yanek and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

© 2015, American Society of Hematology. All rights reserved. Fibrinogen, coagulation factor VII (FVII), and factor VIII (FVIII) and its carrier von Willebrand factor (vWF) play key roles in hemostasis. Previously identified common variants explain only a small fraction of the trait heritabilities, and additional variations may be explained by associations with rarer variants with larger effects. The aim of this study was to identify low-frequency (minor allele frequency [MAF] ≥0.01 and