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

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 characterized an...

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發表在:Mol Genet Genomic Med
Main Authors: Tokoro, Mahiru, Tamura, Shogo, Suzuki, Nobuaki, Kakihara, Misaki, Hattori, Yuna, Odaira, Koya, Suzuki, Sachiko, Takagi, Akira, Katsumi, Akira, Hayakawa, Fumihiko, Okamoto, Shuichi, Suzuki, Atsuo, Kanematsu, Takeshi, Matsushita, Tadashi, Kojima, Tetsuhito
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2020
主題:
Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507428/
https://ncbi.nlm.nih.gov/pubmed/32627361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1390
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