Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism

Family studies have shown a strong heritability component for venous thromboembolism (VTE), but established genetic risk factors are present in only half of VTE patients. To identify genetic risk factors in two large families with unexplained hereditary VTE. We performed whole exome sequencing in 10...

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Veröffentlicht in:	PloS one Jg. 12; H. 11; S. e0187699
Hauptverfasser:	Cunha, Marisa L. R., Meijers, Joost C. M., Rosendaal, Frits R., Vlieg, Astrid van Hylckama, Reitsma, Pieter H., Middeldorp, Saskia
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States Public Library of Science 08.11.2017 Public Library of Science (PLoS)
Schlagworte:	Adult African Americans Alleles Biology and Life Sciences Blood Cardiovascular disease Care and treatment Carriers Case-Control Studies Chromosome 2 Disease control Dosage and administration Epidemiology Exome Exome Sequencing Family medical history Family studies Female Gene Frequency Gene sequencing Genes Genetic Loci Genetic Predisposition to Disease Genetics Genomes Health risk assessment Health risks Heritability Humans Loci Male Medicine Medicine and Health Sciences Middle Aged Oral contraceptives Patients Pedigree Polymorphism, Single Nucleotide Population Population genetics Population studies Research and Analysis Methods Risk analysis Risk Factors Sequence Analysis, DNA Single-nucleotide polymorphism Studies Thromboembolism Thrombosis Venous Thromboembolism - diagnosis Venous Thromboembolism - genetics Venous Thromboembolism - pathology Netherlands
ISSN:	1932-6203, 1932-6203
Online-Zugang:	Volltext
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