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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507428/
https://www.ncbi.nlm.nih.gov/pubmed/32627361
http://dx.doi.org/10.1002/mgg3.1390

Ejemplares similares

Ejemplares similares