戈谢病中的葡萄糖脑苷脂酶基因座：一种溶酶体酶的分子分析 - Suppr

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超能文献

The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.

作者信息

Mistry P K, Cox T M

机构信息

Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK.

出版信息

J Med Genet. 1993 Nov;30(11):889-94. doi: 10.1136/jmg.30.11.889.

DOI:10.1136/jmg.30.11.889

PMID:8301642

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016594/

Abstract

摘要

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The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.戈谢病中的葡萄糖脑苷脂酶基因座：一种溶酶体酶的分子分析

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J Clin Invest. 1993 Jan;91(1):1-2. doi: 10.1172/JCI116156.

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.通过检测外周血白细胞中β-葡萄糖苷酶活性缺乏来诊断成人型戈谢病及其携带者状态。

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