Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.Q449*
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ADAMTS13

NM_139027.6:p.Q449*

Associated Papers

Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.

Seidizadeh O et al.

Blood Advances, 2024

Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.

Markham-Lee Z et al.

Platelets, 2023

Novel ADAMTS13 mutation in a family with three recurrent neonatal deaths: a case report and literature review.

Yang L et al.

Translational Pediatrics, 2022

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.

Borogovac A et al.

Blood Advances, 2022

34807988 (PubMed )
Supplement: advancesADV2021005760-suppl1.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

An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.

Li P et al.

Bmc Medical Genomics, 2021

Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Kremer Hovinga JA et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.

Pérez-Rodríguez A et al.

Thrombosis Research, 2014

Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.

Lancellotti S et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

ADAMTS13 activity and genetic mutations in Japan.

Miyata T et al.

Hamostaseologie, 2013

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.

Hing ZA et al.

British Journal of Haematology, 2013

Two newborn-onset patients of Upshaw-Schulman syndrome with distinct subsequent clinical courses.

Tanabe S et al.

International Journal of Hematology, 2012

Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency.

Yagi H et al.

Presse Medicale (paris, France : 1983), 2012

[ADAMTS13, von Willebrand factor specific cleaving protease].

Veyradier A et al.

Medecine Sciences : M/s, 2011

Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.

Fujimura Y et al.

Journal of Thrombosis and Haemostasis : Jth, 2011

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.

Lotta LA et al.

Human Mutation, 2010

Pathogenesis of thrombotic microangiopathies.

Zheng XL et al.

Annual Review of Pathology, 2008

Analysis on the molecular species and concentration of circulating ADAMTS13 in Blood.

Soejima K et al.

Journal of Biochemistry, 2006

[Development and application of a new ADAMTS13 assay for TTP diagnosis].

Kokame K et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome.

Matsumoto M et al.

Blood, 2004

VWF73, a region from D1596 to R1668 of von Willebrand factor, provides a minimal substrate for ADAMTS-13.

Kokame K et al.

Blood, 2004

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