The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
Published 2021 View Full Article
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Title
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
Authors
Keywords
Hemophilia A, F8, Variant spectrum, Molecular diagnosis, Next generation sequencing, Novel variant
Journal
THROMBOSIS RESEARCH
Volume 202, Issue -, Pages 8-13
Publisher
Elsevier BV
Online
2021-03-03
DOI
10.1016/j.thromres.2021.02.027
References
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Note: Only part of the references are listed.- Target capture next‐generation sequencing in non‐inversion haemophilia: an alternative approach
- (2020) Qiang Li et al. BRITISH JOURNAL OF HAEMATOLOGY
- Clinical manifestation of hemophilia A in the absence of mutations in the F8 gene that encodes FVIII: role of microRNAs
- (2019) Katarzyna I. Jankowska et al. TRANSFUSION
- Update on clinical gene therapy for hemophilia
- (2018) George Q. Perrin et al. BLOOD
- Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
- (2017) Marilyn M. Li et al. JOURNAL OF MOLECULAR DIAGNOSTICS
- Origin of mutation in sporadic cases of severe haemophilia A in Sweden
- (2016) A. Mårtensson et al. CLINICAL GENETICS
- The C1 and C2 domains of blood coagulation factor VIII mediate its endocytosis by dendritic cells
- (2016) Bagirath Gangadharan et al. HAEMATOLOGICA
- The C1 and C2 domains of blood coagulation factor VIII mediate its endocytosis by dendritic cells
- (2016) Bagirath Gangadharan et al. HAEMATOLOGICA
- Factor VIII gene variants and inhibitor risk in African American hemophilia A patients
- (2015) D. Gunasekera et al. BLOOD
- Facilitating the implementation of pharmacokinetic-guided dosing of prophylaxis in haemophilia care by discrete choice experiment
- (2015) J. Lock et al. HAEMOPHILIA
- Complexity and diversity ofF8genetic variations in the 1000 genomes
- (2015) J. N. Li et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Deep intronic ‘mutations’ cause hemophilia A: application of next generation sequencing in patients without detectable mutation inF8cDNA
- (2013) B. Pezeshkpoor et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
- (2012) S. C. Gouw et al. BLOOD
- Deep intronic variations may cause mild hemophilia A
- (2011) G. CASTAMAN et al. JOURNAL OF THROMBOSIS AND HAEMOSTASIS
- Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations
- (2010) F. RICCARDI et al. HAEMOPHILIA
- Recombinant factor VIII in the management of hemophilia A: current use and future promise
- (2010) Jerry Powell Therapeutics and Clinical Risk Management
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