Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss

Autor: Bolor, Hasbaira, Mori, Terumi, Nishiyama, Sachie, Ito, Yoshimasa, Hosoba, Eriko, Inagaki, Hidehito, Kogo, Hiroshi, Ohye, Tamae, Tsutsumi, Makiko, Kato, Takema, Tong, Maoqing, Nishizawa, Haruki, Pryor-Koishi, Kanako, Kitaoka, Eri, Sawada, Tomio, Nishiyama, Yukio, Udagawa, Yasuhiro, Kurahashi, Hiroki

Publikováno v: In The American Journal of Human Genetics 9 January 2009 84(1):14-20

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PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene.

Autor: Kato M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Kato T; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan., Hosoba E; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan., Ohashi M; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Fujisaki M; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Ozaki M; Department of Advanced Medicine, Division of Genomic Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan., Yamaguchi M; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Sameshima H; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan., Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.; Genome and Transcriptome Analysis Center, Fujita Health University, Toyoake, Japan.

Publikováno v: Human genome variation [Hum Genome Var] 2017 Jun 08; Vol. 4, pp. 17021. Date of Electronic Publication: 2017 Jun 08 (Print Publication: 2017).