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Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

作者信息

Esteban J, Rosen D R, Bowling A C, Sapp P, McKenna-Yasek D, O'Regan J P, Beal M F, Horvitz H R, Brown R H

机构信息

Cecil B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital, Charlestown 02129.

出版信息

Hum Mol Genet. 1994 Jun;3(6):997-8. doi: 10.1093/hmg/3.6.997.

DOI:10.1093/hmg/3.6.997
PMID:7951252
Abstract
摘要

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Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.肌萎缩侧索硬化症患者铜/锌超氧化物歧化酶基因中两个新突变和一个新多态性的鉴定。
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