Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature-Reference-Cited by-同舟云学术

Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature

Published:2020-11-27 Issue:1 Volume:27 Page:26-32
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Zdziarska Joanna¹^ORCID,Wypasek Ewa²,Iwaniec Teresa¹,Vilar Rui³,Neerman‐Arbez Marguerite⁴,Undas Anetta⁵

Affiliation:

1. Hematology Department Hematology Clinic Jagiellonian University Medical College University Hospital in Krakow Kraków Poland

2. Faculty of Medicine and Health Sciences Krakow Specialist Hospital named after John Paul II Andrzej Frycz Modrzewski Krakow University Kraków Poland

3. Department of Genetic Medicine and Development University Medical School of Geneva Geneva Switzerland

4. Department of Genetic Medicine and Development Faculty of Medicine University of Geneva Geneva Switzerland

5. Krakow Specialist Hospital named after John Paul II Institute of Cardiology Jagiellonian University Medical College Kraków Poland

Publisher

Wiley

Subject

Genetics(clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.14211

Reference33 articles.

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2. Management of congenital quantitative fibrinogen disorders: a Delphi consensus

3. Mutations in the fibrinogen alpha gene account for the majority of cases of congenital afibrinogenemia;Neerman‐Arbez M;Blood,2000

4. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH

5. Fibrinogen replacement therapy for congenital fibrinogen deficiency

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