Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A-Reference-Cited by-同舟云学术

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Mutation spectrum and inhibitor risk in 100 Korean patients with severe haemophilia A

Published:2012-06-29 Issue:6 Volume:18 Page:1008-1013
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Kim H.-J.¹,Chung H.-S.¹,Kim S. K.²,Yoo K.Y.³,Jung S.-Y.³,Park I.-A.⁴,Lee K.-O.⁴,Kim S.-H.¹,Kim H.-J.

Affiliation:

1. Department of Laboratory Medicine & Genetics; Samsung Medical Center; Sungkyunkwan University School of Medicine; Seoul; Korea

2. Department of Pediatrics; College of Medicine; Inha University Hospital; Incheon; Korea

3. Korea Hemophilia Foundation; Seoul; Korea

4. Samsung Biomedical Research Institute; Samsung Medical Center; Seoul; Korea

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2516.2012.02895.x/fullpdf

Reference41 articles.

1. Molecular genetic testing of hemophilia A;Goodeve;Semin Thromb Hemost,2008

2. Characterization of the human factor VIII gene;Gitschier;Nature,1984

3. Synthesis, processing, and secretion of recombinant human factor VIII expressed in mammalian cells;Kaufman;J Biol Chem,1988

4. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition;Tuddenham;Nucleic Acids Res,1994

5. HAMSTeRS database http://hadb.org.uk/

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1. F8variants and their genotype-phenotype correlations in Thai patients with haemophilia A: a nationwide multicentre study;Journal of Clinical Pathology;2024-07-09

2. Unearthing the genotype‐inhibitor phenotype association in severe haemophilia A: A north Indian cohort study;Haemophilia;2024-02-11

3. Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice;Journal of Clinical Medicine;2022-06-10

4. Clinical Application of Factor VIII:C to VWF:Ag Ratio for the Screening of Haemophilia A Carriers;Journal of Clinical Medicine;2022-03-18

5. Spectrum of F8 Genotype and Genetic Impact on Inhibitor Development in Patients with Hemophilia A from Multicenter Cohort Studies (J-HIS) in Japan;Thrombosis and Haemostasis;2020-11-30

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