The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients-Reference-Cited by-同舟云学术

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The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients

Published:2022-01-22 Issue:2 Volume:28 Page:292-300
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Pagliari Maria Teresa¹^ORCID,Baronciani Luciano²,Cordiglieri Chiara³^ORCID,Colpani Paola²,Cozzi Giovanna²,Siboni Simona M.²^ORCID,Peyvandi Flora²⁴^ORCID

Affiliation:

1. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Università degli Studi di Milano, Department of Pathophysiology and Transplantation Milan Italy

2. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico Angelo Bianchi Bonomi Hemophilia and Thrombosis Center Milan Italy

3. National Institute of Molecular Genetics ‘Romeo e Enrica Invernizzi’ ‐ INGM Milan Italy

4. Università degli Studi di Milano Department of Pathophysiology and Transplantation Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14494

Reference28 articles.

1. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

2. How we make an accurate diagnosis of von Willebrand disease

3. Von Willebrand factor, platelets and endothelial cell interactions

4. Synthesis of Antihemophilic Factor Antigen by Cultured Human Endothelial Cells

5. von Willebrand factor proteolytic processing and multimerization precede the formation of Weibel-Palade bodies

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