A possible mechanism for Inv22-relatedF8large deletions in severe hemophilia A patients with high responding factor VIII inhibitors
Author:
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1538-7836.2012.04897.x/fullpdf
Reference25 articles.
1. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993
2. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions;Naylor;Hum Mol Genet,1993
3. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions;Naylor;Hum Mol Genet,1995
4. Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture;Bagnall;J Thromb Haemost,2005
5. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection;Bagnall;J Thromb Haemost,2006
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1. Comprehensive Analysis of Hemophilia A (CAHEA): Towards Full Characterization of the F8 Gene Variants by Long-Read Sequencing;Thrombosis and Haemostasis;2023-06-07
2. Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping;Haemophilia;2023-03-10
3. Comprehensive analysis of F8 large deletions: Characterization of full breakpoint junctions and description of a possible DNA breakage hotspot in intron 6;Journal of Thrombosis and Haemostasis;2022-10
4. Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A;Haemophilia;2021-09-04
5. Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men;Frontiers in Genetics;2020-09-22
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