(Q33402274)

English

A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

congenital disorder

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thrombocytopenia

1 reference

based on heuristic

inferred from title

thrombotic thrombocytopenic purpura

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

R S Camilleri

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

M Scully

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

M Thomas

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

I J Mackie

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

R Liesner

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

W J Chen

6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

K Manns

7

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

S J Machin

8

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

publication date

1 September 2012

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Journal of Thrombosis and Haemostasis

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Europe PubMed Central

PubMed publication ID

26 July 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1792-1801

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Thrombotic Microangiopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

A novel human metalloprotease synthesized in the liver and secreted into the blood: possibly, the von Willebrand factor-cleaving protease?

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Identification of a cleavage site directing the immunochemical detection of molecular abnormalities in type IIA von Willebrand factor

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Guidelines on the diagnosis and management of thrombotic thrombocytopenic purpura and other thrombotic microangiopathies

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Coagulation factor levels in cryosupernatant prepared from plasma treated with amotosalen hydrochloride (S-59) and ultraviolet A light

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Remission in acute refractory and relapsing thrombotic thrombocytopenic purpura following rituximab is associated with a reduction in IgG antibodies to ADAMTS-13.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Nonneutralizing IgM and IgG antibodies to von Willebrand factor-cleaving protease (ADAMTS-13) in a patient with thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

The use of intermediate purity factor VIII concentrate BPL 8Y as prophylaxis and treatment in congenital thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Thrombotic thrombocytopenic purpura

1 reference

https://api.crossref.org/works/10.1111%2FJ.1538-7836.2012.04852.X

21 January 2018

Identifiers

10.1111/J.1538-7836.2012.04852.X

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

ResearchGate publication ID

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