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

Haemophilia A and B are X-linked hemorrhagic disorders caused by gene variants in the F8 and F9 genes. Due to recessive inheritance, males are affected, while female carriers are usually asymptomatic with a wide range of factor VIII (FVIII) or IX (FIX) levels. Bleeding tendency in female carriers is...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Garagiola, Isabella, Mortarino, Mimosa, Siboni, Simona Maria, Boscarino, Marco, Mancuso, Maria Elisa, Biganzoli, Marina, Santagostino, Elena, Peyvandi, Flora
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7868370/
https://ncbi.nlm.nih.gov/pubmed/33082527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00742-4
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