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检索条件"主题词=22q11.2/"
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A novel competitive fluorescent multiplex STRP assay for rapid,reliable and single-tube screening of 22q11.2 copy-number aberrations
A novel competitive fluorescent multiplex STRP assay for rap...
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江苏省遗传学会第七届二次代表大会暨学术研讨会
作者： Chi Yang1,2,3, Li Shen4, Zhengfeng Xu2*, Xiaojian Wu1, Xuming Mo4, Jingjing Zhang2, Dongjin Wang5, Yaping Wang3, Yuzhu Peng2, Li Cao2, Yongzhong Jiang4, Shi-Lin Chen5, Xuming Bian6, Juntao Liu6, Di qiao1 and Long Yi1 (1Department of Pathology, Nanjing University Medical School, Nanjing, PR China 2Center of Prenatal Diagnosis, Nanjing Maternity and Child Health Hospital, Nanjing Medical University, Nanjing, PR China 3Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School, Nanjing, PR China 4Department of Cardiothoracic Surgery, Nanjing Children’s Hospital, Nanjing, PR China 5Department of Cardiothoracic Surgery, Drum Tower Hospital Affiliated to Nanjing University Medical School, Nanjing, PR China 6Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Beijing, PR China)
＜正＞Copy-number aberrations of the 22q11.2 region can lead to varied resulting and complex phenotypes. Routine screening for these common constitutional chromosomal abnormalities requires powerful tools.
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