Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in theF8gene - a case report
Author:
Affiliation:
1. Department of Human Genetics; University of Würzburg; Würzburg; Germany
2. Magdeburg University Children's Hospital; Magdeburg; Germany
3. Institute of Experimental Haematology and Transfusion Medicine; University Hospital of Bonn; Bonn; Germany
Publisher
Wiley
Subject
Genetics (clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12190/fullpdf
Reference10 articles.
1. Molecular mechanisms underlying hemophilia A phenotype in seven females;Pavlova;J Thromb Haemost,2009
2. Molecular characterization of female hemophilia A by multiplex ligation-dependent probe amplification analysis and X-chromosome inactivation study;Song;Blood Coagul Fibrinolysis,2011
3. Clinical and genetic findings in five female patients with haemophilia A: identification of a novel missense mutation, p.Phe2127Ser;Martín-Salces;Thromb Haemost,2010
4. Inversion of intron 22 of the factor VIII gene in a girl with severe hemophilia A and Turner's syndrome;Chuansumrit;Thromb Haemost,1999
5. Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene;Loreth;Thromb Haemost,2006
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1. Genetic causes of haemophilia in women and girls;Haemophilia;2020-12-13
2. Successful immune tolerance in a young female with inhibitor and severe haemophilia A due to a complex genetic rearrangement;Haemophilia;2018-07
3. F8gene: embedded in a region of genomic instability representing a hotspot of complex rearrangements;Haemophilia;2015-05-04
4. F8 genetic analysis strategies when standard approaches fail;Hämostaseologie;2014
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