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脾Gaucher病

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摘要 1882年Philippe Gaucher的博士论文中第一次描述了Gaucher病(Gaucher's Sdisease),他认为脾中有增大的细胞浸润可能是一种新生物。1965年国立卫生研究院的Brady研究小组在生物化学的基础上对这个疾病作了进一步的研究。20世纪80年代后期在分子水平上对该病进一步研究发现葡萄糖脑苷脂酶基因发生突变。Gaucher病是一种常染色体隐性遗传性疾病,又称葡萄糖神经酞胺贮积病。
出处 《菏泽医学专科学校学报》 2008年第4期86-88,共3页 Journal of Heze Medical College
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参考文献11

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二级参考文献16

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