Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
位置效应、隐蔽复杂性和直接基因破坏是新生表观平衡易位病例的致病机制
期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0205298
Aristidou Constantia, Theodosiou Athina, Bak Mads, Mehrjouy Mana M, Constantinou Efthymia, Alexandrou Angelos, Papaevripidou Ioannis, Christophidou-Anastasiadou Violetta, Skordis Nicos, Kitsiou-Tzeli Sophia, Tommerup Niels, Sismani Carolina