Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.

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Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1111/JTH.12291
P8608Fatcat IDrelease_y7hv7wssbbezjg33rv2jt42t5q
P698PubMed publication ID23648131

P50authorIda MartinelliQ38544398
Flora PeyvandiQ39183632
Serena M. PassamontiQ45343652
Luca A LottaQ56816936
P2093author name stringJ Yu
M Wang
D M Muzny
R A Gibbs
F R Rosendaal
G Randi
C Valsecchi
F Yu
E Pappalardo
S E Scherer
W Hale
G Tuana
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Rare independent mutations in renal salt handling genes contribute to blood pressure variationQ24627187
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Platelet reactive conformation and multimeric pattern of von Willebrand factor in acquired thrombotic thrombocytopenic purpura during acute disease and remission.Q33396071
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpuraQ33400891
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.Q34399014
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Recurrent thromboembolism in cancer patients: incidence and risk factorsQ35632477
Evidence that high von Willebrand factor and low ADAMTS-13 levels independently increase the risk of a non-fatal heart attackQ36575311
Deciphering the molecular basis of venous thromboembolism: where are we and where should we go?Q37632464
ARC15105 is a potent antagonist of von Willebrand factor mediated platelet activation and adhesionQ38328222
Coagulation factors, inflammation markers, and venous thromboembolism: the longitudinal investigation of thromboembolism etiology (LITE).Q43864459
ADAMTS13 and von Willebrand factor and the risk of myocardial infarction in men.Q44434665
Prospective study of markers of hemostatic function with risk of ischemic stroke. The Atherosclerosis Risk in Communities (ARIC) Study InvestigatorsQ48134376
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.Q51773327
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variantsQ57087763
von Willebrand factor and coronary heart disease. Prospective study and meta-analysisQ57416365
P433issue7
P921main subjectthrombosisQ261327
P304page(s)1228-1239
P577publication date2013-07-01
P1433published inJournal of Thrombosis and HaemostasisQ6296004
P1476titleNext-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis
P478volume11

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cites work (P2860)
Q47599879ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension.
Q33418539Absolute immature platelet count dynamics in diagnosing and monitoring the clinical course of thrombotic thrombocytopenic purpura
Q37516941Apolipoprotein E polymorphism is associated with lower extremity deep venous thrombosis: color-flow Doppler ultrasound evaluation
Q30235420Genetic factors in pediatric venous thromboembolism
Q39743484Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect
Q57786981Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next-generation sequencing
Q38818548Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis.
Q36179343Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis
Q36965849Personalized medicine in thrombosis: back to the future
Q35959692Single Nucleotide Variant rs2232710 in the Protein Z-Dependent Protease Inhibitor (ZPI, SERPINA10) Gene Is Not Associated with Deep Vein Thrombosis
Q57605571Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes
Q33418985The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice
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