Identification and functional characterization of a novel splicing variant in theF8coagulation gene causing severe hemophilia A
Author:
Affiliation:
1. Department of Health Sciences Università del Piemonte Orientale Novara Italy
2. Hemostasis and Thrombosis Unit Città Della Salute e Della Scienza Molinette, Turin Italy
Funder
H2020 European Research Council
Publisher
Wiley
Subject
Hematology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jth.14779
Reference53 articles.
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2. Using genetic diagnostics in hemophilia and von Willebrand disease;Swystun LL;Hematology,2015
3. Definitions in hemophilia: recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis;White GC;Thromb Haemost,2001
4. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens;Oldenburg J;Blood,2015
5. Recombinant factor VIII concentrates;Franchini M;Semin Thromb Hemost,2010
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1. An intronic RNA element modulates Factor VIII exon-16 splicing;Nucleic Acids Research;2023-11-14
2. Rescue of blood coagulation Factor VIII exon-16 mis-splicing by antisense oligonucleotides;2023-04-01
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