Huntington's disease: a clinical, genetic and molecular model for polyglutamine repeat disorders.
作者信息
Harper P S
出版信息
Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):957-61. doi: 10.1098/rstb.1999.0446.
Abstract
摘要
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本文引用的文献
1
Glutamine repeats and inherited neurodegenerative diseases: molecular aspects.
Curr Opin Struct Biol. 1996 Dec;6(6):848-58. doi: 10.1016/s0959-440x(96)80016-9.
2
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.亨廷顿舞蹈病（HD）基因中含有30 - 40个CAG重复序列的个体的表型特征显示，存在具有36个重复序列的HD病例以及具有36 - 39个重复序列的明显正常的老年人。
Am J Hum Genet. 1996 Jul;59(1):16-22.
3
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.亨廷顿舞蹈病中三核苷酸重复序列扩增与表型变异的关系。
Nat Genet. 1993 Aug;4(4):393-7. doi: 10.1038/ng0893-393.
4
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.1型脊髓小脑共济失调中不稳定的三核苷酸CAG重复序列的扩增。
Nat Genet. 1993 Jul;4(3):221-6. doi: 10.1038/ng0793-221.
5
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).遗传性齿状核红核苍白球路易体萎缩（DRPLA）中CAG重复序列的不稳定扩增。
Nat Genet. 1994 Jan;6(1):9-13. doi: 10.1038/ng0194-9.
6
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.
7
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.X连锁性脊髓延髓肌肉萎缩症中的雄激素受体基因突变。
Nature. 1991 Jul 4;352(6330):77-9. doi: 10.1038/352077a0.
8
Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.亨廷顿舞蹈症症状的遗传模式提示了基因组印记效应。
J Med Genet. 1991 Apr;28(4):224-31. doi: 10.1136/jmg.28.4.224.
9
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.强直性肌营养不良的分子基础：编码蛋白激酶家族成员的转录本3'端三核苷酸（CTG）重复序列的扩增。
Cell. 1992 Feb 21;68(4):799-808. doi: 10.1016/0092-8674(92)90154-5.
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