在一名明显散发型肌萎缩侧索硬化症患者中鉴定出一种新的超氧化物歧化酶1（SOD1）突变，并在另外三名患者中检测到Ile113Thr突变。 - Suppr

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超能文献

Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.

作者信息

Jones C T, Swingler R J, Brock D J

机构信息

Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

出版信息

Hum Mol Genet. 1994 Apr;3(4):649-50. doi: 10.1093/hmg/3.4.649.

DOI:10.1093/hmg/3.4.649

PMID:8069312

Abstract

摘要

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