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- W2254333025 abstract "X chromosome inactivation is a stochastic event that occurs early in female embryo development to achieve dosage compensation with males. Certain genetic mechanisms affect the normal process causing a skewed X inactivation pattern which has clinical relevance in female carriers of X-linked recessive disorders, like haemophilia. The most commonly used assay to evaluate the X inactivation pattern is the PCR amplification of the human androgen receptor gene (HUMARA). The use of this technique in bleeding carriers and women with haemophilia allows identifying if their hemorrhagic symptoms are due to an unfavourable lyonization. Furthermore, these studies are important for understanding the X chromosome inactivation process in humans." @default.
- W2254333025 created "2016-06-24" @default.
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- W2254333025 date "2008-07-02" @default.
- W2254333025 modified "2023-09-28" @default.
- W2254333025 title "[Assessing the inactivation pattern in chromosome X among symptomatic carriers and women with haemophilia]." @default.
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