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家族性帕金森病中超氧化物歧化酶1(SOD 1)基因的序列

Sequence of the superoxide dismutase 1 (SOD 1) gene in familial Parkinson's disease.

作者信息

Bandmann O, Davis M B, Marsden C D, Harding A E

机构信息

University Department of Clinical Neurology, (Neurogenetics Section), Institute of Neurology, London, UK.

出版信息

J Neurol Neurosurg Psychiatry. 1995 Jul;59(1):90-1. doi: 10.1136/jnnp.59.1.90.

DOI:10.1136/jnnp.59.1.90
PMID:7608718
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1073609/
Abstract

Mutations in the superoxide dismutase 1 (SOD1) gene have been detected in affected members of some families with familial amyotrophic lateral sclerosis. To evaluate the possibility of a shared genetic defect in amyotrophic lateral sclerosis and Parkinson's disease, the SOD1 gene was sequenced in index patients with familial Parkinson's disease from 23 families. No changes were detected.

摘要

在一些患有家族性肌萎缩侧索硬化症的家族的患病成员中,已检测到超氧化物歧化酶1(SOD1)基因突变。为评估肌萎缩侧索硬化症和帕金森病存在共同遗传缺陷的可能性,对来自23个家族的家族性帕金森病索引患者的SOD1基因进行了测序。未检测到变化。

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本文引用的文献

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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.铜锌超氧化物歧化酶基因突变与家族性肌萎缩侧索硬化症相关。
Nature. 1993 Mar 4;362(6415):59-62. doi: 10.1038/362059a0.
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Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.表达人类铜锌超氧化物歧化酶突变的小鼠中的运动神经元变性。
Science. 1994 Jun 17;264(5166):1772-5. doi: 10.1126/science.8209258.
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Cu/Zn superoxide dismutase (SOD1) mutations and sporadic amyotrophic lateral sclerosis.铜/锌超氧化物歧化酶(SOD1)突变与散发性肌萎缩侧索硬化症
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Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses significant activity.与家族性肌萎缩侧索硬化症相关的突变超氧化物歧化酶1具有显著活性。
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Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.常染色体显性帕金森病的基因连锁研究:七个候选基因的评估
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