Aberrant X chromosomal rearrangement through multi‐step template switching during sister chromatid formation in a patient with severe hemophilia A

Aberrant X chromosomal rearrangement through multi‐step template switching during sister chromatid formation in a patient with severe hemophilia A

Abstract Background Hemophilia A (HA) is an X‐linked recessive bleeding disorder caused by pathogenic variants of the coagulation factor VIII gene (F8). Half of the patients with severe HA have a recurrent inversion in the X chromosome, that is, F8 intron 22 or intron 1 inversion. Here, we character...

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Bibliografiska uppgifter
Huvudupphovsmän: Mahiru Tokoro, Shogo Tamura, Nobuaki Suzuki, Misaki Kakihara, Yuna Hattori, Koya Odaira, Sachiko Suzuki, Akira Takagi, Akira Katsumi, Fumihiko Hayakawa, Shuichi Okamoto, Atsuo Suzuki, Takeshi Kanematsu, Tadashi Matsushita, Tetsuhito Kojima
Materialtyp: Artikel
Språk:English
Publicerad: Wiley 2020-09-01
Serie:Molecular Genetics & Genomic Medicine
Ämnen:
chromosomal rearrangement
F8
FoSTeS/MMBIR
hemophilia A
homologous recombination
inversion
Länkar:https://doi.org/10.1002/mgg3.1390

Internet

https://doi.org/10.1002/mgg3.1390

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