Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles
Author:
Publisher
Wiley
Subject
Genetics (clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2516.2003.00704.x/fullpdf
Reference22 articles.
1. Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation;Wise;Hum Genet,1993
2. Variant of factor IX deficiency in female with 45 X Turner's Syndrome;Bithell;Blood,1970
3. The molecular basis of severe hemophilia B in a girl;Nisen;N Engl J Med,1986
4. Severe haemophilia A in a female resulting from two de novo factor VIII mutations;Windsor;Br J Haematol,1995
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