X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-020-00742-4.pdf
Reference53 articles.
1. Mannucci PM, Tuddenham EG. The Hemophilias–from royal genes to gene therapy. N Engl J Med. 2001;344:1773–9.
2. Peyvandi F, Garagiola I, Young G. The past and future of hemophilia: diagnosis, treatments, and its complications. Lancet. 2016;388:187–97.
3. Plug I, Mauser-Bunschoten EP, Bröcker-Vriends AH, van Amstel HK, van der Bom JG, van Diemen-Homan JE, et al. Bleeding in carriers of hemophilia. Blood. 2006;108:52–6.
4. Radic CP, Rossetti LC, Abelleyro MM, Tetzlaff T, Candela M, Neme D, et al. Phenotype-genotype correlations in hemophilia A carriers are consistent with the binary role of the phase between F8 and X-chromosome inactivation. J Thromb Haemost. 2015;13:530–9.
5. Miyawaki Y, Suzuki A, Fujimori Y, Takagi A, Murate T, Suzuki N, et al. Severe hemophilia A in a Japanese female caused by an F8-intron 22 inversion associated with skewed X chromosome inactivation. Int J Hematol. 2010;92:405–8.
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