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PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene.
Kato M, Kato T, Hosoba E, Ohashi M, Fujisaki M, Ozaki M, Yamaguchi M, Sameshima H, Kurahashi H. Kato M, et al. Among authors: yamaguchi m. Hum Genome Var. 2017 Jun 8;4:17021. doi: 10.1038/hgv.2017.21. eCollection 2017. Hum Genome Var. 2017. PMID: 28611924 Free PMC article.
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Sugimoto T, Inagaki H, Mariya T, Kawamura R, Taniguchi-Ikeda M, Mizuno S, Muramatsu Y, Tsuge I, Ohashi H, Saito N, Hasegawa Y, Ochi N, Yamaguchi M, Murotsuki J, Kurahashi H. Sugimoto T, et al. Among authors: yamaguchi m. Hum Genet. 2023 Oct;142(10):1451-1460. doi: 10.1007/s00439-023-02591-9. Epub 2023 Aug 24. Hum Genet. 2023. PMID: 37615740 Free PMC article.
6,039 results