Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.1991.tb01568.x/fullpdf
Reference16 articles.
1. The occurrence of homozygous haemophilia in the female;Morita;Acta Haematol,1971
2. Variant of factor IX deficiency in a female with 45, X Turner's syndrome;Bithell;Blood,1970
3. Christmas disease (haemophilia B) in a girl with deletion of the short arm of one X-chromosome (functional Turner syndrome);Spinelli;Br J Haematol,1976
4. Severe factor VIII and factor IX deficiency in females;Lusher;Am J Med,1978
5. Homozygous expression of haemophilia B in a heterozy-gote;Holmberg;Acta Med Scand,1978
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1. Genetic causes of haemophilia in women and girls;Haemophilia;2020-12-13
2. Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation;Journal of Thrombosis and Haemostasis;2015-03-14
3. Clinical advances in hemophilia management;Pediatric Blood & Cancer;2011-07-13
4. Variability in bleeding phenotype in Amish carriers of haemophilia B with the 31008 C→T mutation;Haemophilia;2009-01
5. Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B;British Journal of Haematology;2001-06
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