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首页> Medicine> The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.

The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study.

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作者： Yinhong,Zhang ^[1] ; Jing,He ^[2] ; Yunqian,Zhang ^[1] ; Li,Li ^[3] ; Xinhua,Tang ^[2] ; Lei,Wang ^[4] ; Jingjing,Guo ^[1] ; Chanchan,Jin ^[1] ; Sean,Tighe ^[1] ; Yuan,Zhang ^[1] ; Yingting,Zhu ^[5] ; Baosheng,Zhu ^[5]

作者单位： Department of Medical Genetics, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology. ^[1] Faculty of Life Science and Biotechnology, Kunming University of Science and Technology. ^[2] Department of Neurology, The Second People's Hospital of Yunnan Province. ^[3] Department of Pediatrics, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China. ^[4] Tissue Tech, Inc., Ocular Surface Center, and Ocular Surface Research & Education Foundation, Miami, FL. ^[5]

主题词青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);基因剂量(Gene Dosage);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);婴儿(Infant);男(雄)性(Male);肌萎缩, 脊髓性(Muscular Atrophy, Spinal);神经细胞凋亡抑制蛋白质(Neuronal Apoptosis-Inhibitory Protein);运动神经元生存蛋白质1(Survival of Motor Neuron 1 Protein);运动神经元生存蛋白质2(Survival of Motor Neuron 2 Protein);青年人(Young Adult)

DOI 10.1097/MD.0000000000018809

PMID 32011487

发布时间 2020-06-16

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Medicine

Medicine

2020年99卷3期

e18809页

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