Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease-Reference-Cited by-同舟云学术

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Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease

Published:2020-04-08 Issue:3 Volume:26 Page:375-383
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Lannoy Nathalie¹^ORCID,Hermans Cedric¹^ORCID

Affiliation:

1. Division of Adult Haematology Haemophilia Center Saint‐Luc University Hospital Université catholique de Louvain Brussels Belgium

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.13975

Reference42 articles.

1. Bleeding in carriers of hemophilia

2. Women with bleeding disorders

3. Somatic Mosaicism in Hemophilia A: A Fairly Common Event

4. Origin of mutation in sporadic cases of haemophilia A

5. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Origin of pathogenic variant and mosaicism in families with a sporadic case of haemophilia B;Haemophilia;2024-04-17

2. De Novo Noninversion Variants Implicated in Sporadic Hemophilia A: A Variant Origin and Timing Study;International Journal of Molecular Sciences;2024-02-01

3. Molecular diagnostics for coagulopathies;Diagnostic Molecular Pathology;2024

4. Absence of Missense Variant Detection in Inherited Dysfibrinogenemia May Result from a Poor Raw Data Analysis Algorithm or Mosaicism;International Journal of Molecular Sciences;2023-11-21

5. Four Decades of Carrier Detection and Prenatal Diagnosis in Hemophilia A: Historical Overview, State of the Art and Future Directions;International Journal of Molecular Sciences;2023-07-24

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