Associated Papers
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
40765928 (PubMed )
Supplement: BVTH_VTH-2024-000154-mmc1.pdf
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
34789164 (PubMed )
Supplement: 12863_2021_1010_MOESM10_ESM.xlsx › HGMD
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
34662354 (PubMed )
Supplement: pone.0258675.s002.pdf
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
Alwan F et al.
Blood, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Upshaw-Schulman Syndrome: Novel homozygous missense mutation.
Sarmiento H et al.
Thrombosis Research, 2017
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
30046676 (PubMed )
Supplement: RTH2-1-69-s004.pdf
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.
Hing ZA et al.
British Journal of Haematology, 2013
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.
Camilleri RS et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
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