Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients

Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females, such as skewed X-chromosome inactivation (XCI), chromosomal rearrangements...

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書誌詳細

主要な著者:	Ming-Ching Shen, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2022-09-01
シリーズ:	Diagnostics
主題:	female hemophilia X-linked heterozygous inactivation skewed XCI gonadal mosaicism
オンライン･アクセス:	https://www.mdpi.com/2075-4418/12/10/2267
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