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Article

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

PloS one - 1 Jan 2017

Cunha Marisa L R, Meijers Joost C M, Rosendaal Frits R, Vlieg Astrid van Hylckama, Reitsma Pieter H, Middeldorp Saskia

Abstract excerpt

BACKGROUND: 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. AIM: To identify genetic risk factors in two large families with unexplained hereditary VTE. METHODS: We performed whole exome sequencing in 10 affected relatives of two unrelated families with an unexplained tendency for VTE. We...

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Identifiers

PMID: 29117201
DOI: 10.1371/journal.pone.0187699
PMCID: PMC5695603

Genes

PLEKHH2
RAB37
SRBD1

Variants

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