Variants p.Pro2063Ser and p.Arg324* co‐segregate in type 3 von Willebrand disease patients from Southern Brazil-Reference-Cited by-同舟云学术

Variants p.Pro2063Ser and p.Arg324* co‐segregate in type 3 von Willebrand disease patients from Southern Brazil

Published:2021-02-06 Issue:2 Volume:27 Page:
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Ornaghi Ana Paula¹^ORCID,Meireles Mariana Rost¹,Botton Mariana Rodrigues¹,Salzano Francisco Mauro¹^ORCID,Bandinelli Eliane¹,Matte Ursula¹

Affiliation:

1. Departamento de Genética e Programa de Pós‐Graduação em Genética e Biologia Molecular Instituto de Biociências Universidade Federal do Rio Grande do Sul Porto Alegre Rio Grande do Sul Brazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14254

Reference34 articles.

1. Human von Willebrand factor gene and pseudogene: structural analysis and differentiation by polymerase chain reaction

2. Cell Biology of von Willebrand Factor

3. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

4. 4 Factor VIII and haemophilia A

5. Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III

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