Spectrum and origin of mutations in sporadic cases of haemophilia A in China-Reference-Cited by-同舟云学术

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Spectrum and origin of mutations in sporadic cases of haemophilia A in China

Published:2018-01-30 Issue:2 Volume:24 Page:291-298
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Lu Y.¹^ORCID,Xin Y.²,Dai J.¹,Wu X.¹,You G.³,Ding Q.¹,Wu W.¹,Wang X.¹

Affiliation:

1. Department of Laboratory Medicine; Ruijin Hospital; Shanghai Jiao Tong University School of Medicine; Shanghai China

2. Department of Laboratory Medicine; The Fourth Affiliated Hospital; Harbin Medical University; Harbin China

3. Department of Laboratory Medicine; Shanghai Children's Medical Center; Shanghai Jiao Tong University School of Medicine; Shanghai China

Funder

Shanghai Outstanding Youth Clinical Medical Talents (Medical Laboratory Scientists) Training Funding

National Key Research and Development Program of China

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.13402/fullpdf

Reference35 articles.

1. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network;Keeney;Haemophilia,2005

2. Historical review on genetic analysis in haemophilia A;Oldenburg;Semin Thromb Hemost,2014

3. Genetic counseling of haemophilia carriers;Rolf Ljung;Semin Thromb Hemost,2003

4. Origin of mutation in sporadic cases of severe haemophilia A in Sweden;Martensson;Clin Genet,2016

5. Complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis;Chen;Thromb Haemost,2017

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1. Report on the diagnosis and treatment of hemophilia in China (Version 2024);LabMed Discovery;2024-07

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. Variant spectrum of F8 and F9 in hemophilia patients from southern China and 26 novel variants;Frontiers in Genetics;2023-12-22

4. Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations;The Application of Clinical Genetics;2023-12

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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