Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining
成骨不全症伴有包括 COL1A1 基因在内的大片段缺失,由 Alu 驱动的微同源介导的末端连接诱导。
期刊:Bone Reports
影响因子:2.6
doi:10.1016/j.bonr.2026.101901
Yamamoto, Kenichi; Nakayama, Hirofumi; Ito, Yusaku; Hattori, Masaya; Shimada, Takaaki; Ueda, Ikumi; Ishimi, Takeshi; Yamada, Chieko; Nakano, Yukako; Fujiwara, Makoto; Kubota, Takuo; Ohata, Yasuhisa; Kitabatake, Yasuji