Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations-Reference-Cited by-同舟云学术

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Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations

Published:2013-07-09 Issue:6 Volume:19 Page:e344-e348
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Jokela V.¹,Lassila R.¹²,Szanto T.²,Joutsi-Korhonen L.²,Armstrong E.¹,Oyen F.³,Schneppenheim S.⁴,Schneppenheim R.³

Affiliation:

1. Coagulation Disorders Unit; Department of Hematology; Helsinki University Central Hospital; Helsinki Finland

2. HUSLAB Laboratory Services; Coagulation Disorders Unit and Clinical Chemistry; University of Helsinki; Helsinki Finland

3. Department of Pediatric Hematology and Oncology; University Medical Center Hamburg-Eppendorf; Hamburg Germany

4. Asklepios Clinic Altona; Medilys Laboratory; Hamburg Germany

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12225/fullpdf

Reference28 articles.

1. Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor;Sadler;J Thromb Haemost,2006

2. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology;Eikenboom;Best Pract Res Clin Haematol,2001

3. Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multileft study;Castaman;J Thromb Haemost,2006

4. Clinical diagnosis of von Willebrand disease;Federici;Haemophilia,2004

5. Nordic Haemophilia Council's practical guidelines on diagnosis and management of von Willebrand disease;Lassila;Semin Thromb Haemost,2011

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1. Unravelling the spectrum of von Willebrand factor variants in quantitative von Willebrand disease: results from a German cohort study;Journal of Thrombosis and Haemostasis;2024-07

2. Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS;Blood Advances;2021-08-05

3. The Current Understanding of Molecular Pathogenesis of Quantitative von Willebrand Disease, Types 1 and 3;Hämostaseologie;2020-01-22

4. von Willebrand factor alloantibodies in type 3 von Willebrand disease;Blood Coagulation & Fibrinolysis;2020-01

5. VON WILLEBRAND DISEASE: CLINICAL, COAGULOGICAL, MOLECULAR AND GENETIC DATA COMPARISON;Russian journal of hematology and transfusiology;2019-11-09

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