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Arch Neurol. 2003 Apr;60(4):610-4. doi: 10.1001/archneur.60.4.610.
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Transgenic rat model of Huntington's disease.亨廷顿舞蹈病转基因大鼠模型
Hum Mol Genet. 2003 Mar 15;12(6):617-24. doi: 10.1093/hmg/ddg075.
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A Drosophila homolog of the polyglutamine disease gene SCA2 is a dosage-sensitive regulator of actin filament formation.多聚谷氨酰胺疾病基因SCA2的果蝇同源物是肌动蛋白丝形成的剂量敏感调节因子。
Genetics. 2002 Dec;162(4):1687-702. doi: 10.1093/genetics/162.4.1687.
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Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
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Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.一名患有弗里德赖希共济失调和家族性肥厚型心肌病的儿童中,frataxin和心肌肌钙蛋白T基因突变共存。
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Frataxin knockin mouse.铁调素基因敲入小鼠
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A Bayesian approach to the transmission/disequilibrium test for binary traits.一种用于二元性状传递/不平衡检验的贝叶斯方法。
Genet Epidemiol. 2002 Jan;22(1):41-51. doi: 10.1002/gepi.1042.
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神经遗传学:单基因疾病

Neurogenetics: single gene disorders.

作者信息

Pulst S-M

机构信息

Division of Neurology, Cedars-Sinai Medical Center, Department of Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

出版信息

J Neurol Neurosurg Psychiatry. 2003 Dec;74(12):1608-14. doi: 10.1136/jnnp.74.12.1608.

DOI:10.1136/jnnp.74.12.1608
PMID:14638875
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1757413/
Abstract

The advent of molecular biology has changed the way in which neurological illnesses are classified, and the single genes causing a number of disorders have been identified. In addition, techniques such as linkage analysis and DNA sequencing have resulted in greater understanding of multi-gene diseases. This review covers some of the molecular tools and animal models used for genetic analysis and for DNA based diagnosis, and a brief survey of information available on the internet.

摘要

分子生物学的出现改变了神经疾病的分类方式,并且已经确定了导致多种疾病的单个基因。此外,连锁分析和DNA测序等技术使人们对多基因疾病有了更深入的了解。本综述涵盖了一些用于遗传分析和基于DNA诊断的分子工具及动物模型,并简要介绍了互联网上可得的信息。