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在Sonic Hedgehog中发生的生殖延长突变

Sebastian M Waszak1, Giles W Robinson2, Brian L Gudenas3

  • 1European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.

Nature
|April 17, 2020
PubMed
概括

在ELP1基因中罕见的生殖系变异是儿童Sonic Hedgehog髓母细胞瘤的常见原因,这是一个罕见的脑癌. 这一发现突显了蛋白质平衡在癌症发展中的作用.

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