A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta
COL1A2 中一种新的隐蔽剪接位点突变是导致成骨不全症的原因
期刊:Bone Reports
影响因子:2.9
doi:10.1016/j.bonr.2021.101110
Ahmed El-Gazzar, Johannes A Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler