Mini-gene assays confirm the splicing effect of deep intronic variants in the factor VIII gene
Author:
Publisher
Georg Thieme Verlag KG
Subject
Hematology
Link
http://www.thieme-connect.de/products/ejournals/pdf/10.1160/TH15-05-0399.pdf
Reference13 articles.
1. Characterization of the human factor VIII gene
2. Definitions in Hemophilia
3. New Insight into the Molecular Basis of Hemophilia A
4. Identification and characterization of mutations in the promoter region of the factor VIII gene
5. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients
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1. 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
2. Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non‐severe haemophilia A;Haemophilia;2023-07-06
3. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24
4. The challenge of genetically unresolved haemophilia A patients: Interest of the combination of whole F8 gene sequencing and functional assays;Haemophilia;2020-10-23
5. A Bioinformatics Toolkit: In Silico Tools and Online Resources for Investigating Genetic Variation;Seminars in Thrombosis and Hemostasis;2019-08-05
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