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Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T

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作者： Chen, Weicheng ^[1] ; Liu, Sida ^[2] ; Hu, Huifang ; Chen, Gang ; Zhu, Shaicheng ; Jia, Bing ; Sheng, Wei ; Huang, Guoying

作者单位： Fudan Univ, Childrens Hosp, Cardiovasc Ctr, 399 Wanyuan Rd, Shanghai 201102, Peoples R China ^[1] Maternal & Child Hlth Hosp Yancheng, Dept Pediat Cardiothorac Surg, Yancheng 224002, Jiangsu ^[2]

关键词 ataxia-telangiectasia syndrome whole-exome sequencing ataxia-telangiectasia mutated gene deletion variant

发布时间 2020-12-25

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Nature reviews neuroscience

2019年20卷2期

1655-1662页

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Nature reviews neuroscience

2019年20卷2期

1655-1662页

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Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T

Nature reviews neuroscience

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Nature reviews neuroscience

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Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T

Nature reviews neuroscience

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Nature reviews neuroscience

相关期刊

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