X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers-Reference-Cited by-同舟云学术

X Chromosome inactivation: a modifier of factor VIII and IX plasma levels and bleeding phenotype in Haemophilia carriers

Published:2020-10-20 Issue:2 Volume:29 Page:241-249
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Garagiola Isabella^ORCID,Mortarino Mimosa,Siboni Simona Maria,Boscarino Marco,Mancuso Maria Elisa,Biganzoli Marina,Santagostino Elena,Peyvandi Flora^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-020-00742-4.pdf

Reference53 articles.

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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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