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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2020-09-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	chromosomal rearrangement F8 FoSTeS/MMBIR hemophilia A homologous recombination inversion
Acesso em linha:	https://doi.org/10.1002/mgg3.1390
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