F8gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements
Author:
Affiliation:
1. Institute of Experimental Haematology and Transfusion Medicine; University of Bonn; Bonn Germany
Publisher
Wiley
Subject
Genetics (clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12687/fullpdf
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3. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network;Keeney;Haemophilia,2005
4. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A;Lakich;Nat Genet,1993
5. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A;Bagnall;Blood,2002
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1. Successful immune tolerance in a young female with inhibitor and severe haemophilia A due to a complex genetic rearrangement;Haemophilia;2018-07
2. Accurate, simple, and inexpensive assays to diagnose F8 gene inversion mutations in hemophilia A patients and carriers;Blood Advances;2016-12-14
3. Five int22h homologous copies at the Xq28 locus identified in intron22 inversion type 3 of the Factor VIII gene;Thrombosis Research;2016-01
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