1型脊髓小脑共济失调和马查多-约瑟夫病患者中枢神经系统组织中CAG重复序列的嵌合现象与死亡年龄的关系。 - Suppr

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超能文献

Mosaicism of the CAG repeat in CNS tissue in relation to age at death in spinocerebellar ataxia type 1 and Machado-Joseph disease patients.

作者信息

Maciel P, Lopes-Cendes I, Kish S, Sequeiros J, Rouleau G A

出版信息

Am J Hum Genet. 1997 Apr;60(4):993-6.

PMID:9106546

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1712490/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1877/1712490/52404b2b0a25/ajhg00004-0250-a.jpg

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本文引用的文献

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.脊髓小脑共济失调2型基因的克隆揭示了一个对CAG/谷氨酰胺重复序列扩增高度敏感的基因座。

Nat Genet. 1996 Nov;14(3):285-91. doi: 10.1038/ng1196-285.

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.运用重复序列扩张直接鉴定与克隆技术（DIRECT）鉴定2型脊髓小脑共济失调基因。

Nat Genet. 1996 Nov;14(3):277-84. doi: 10.1038/ng1196-277.

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.2型脊髓小脑共济失调中正常双等位基因三核苷酸重复序列的中度扩增。

Nat Genet. 1996 Nov;14(3):269-76. doi: 10.1038/ng1196-269.

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Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.齿状核红核苍白球路易体萎缩症患者大脑中CAG重复序列扩增的体细胞镶嵌现象：有丝分裂不稳定性的细胞群体依赖性动态变化

Am J Hum Genet. 1996 Jun;58(6):1212-22.

Structural and immunocytochemical features of olivopontocerebellar atrophy caused by the spinocerebellar ataxia type 1 (SCA-1) mutation define a unique phenotype.由1型脊髓小脑共济失调（SCA-1）突变引起的橄榄体脑桥小脑萎缩的结构和免疫细胞化学特征定义了一种独特的表型。

Acta Neuropathol. 1995;90(6):572-81. doi: 10.1007/BF00318569.

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.

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.1型脊髓小脑共济失调中存在导致代际CAG重复序列不稳定的机制的证据。

Nat Genet. 1993 Nov;5(3):254-8. doi: 10.1038/ng1193-254.

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.

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm.亨廷顿病基因CAG重复序列在大脑和精子中的体细胞及性腺嵌合现象。

Nat Genet. 1994 Apr;6(4):409-14. doi: 10.1038/ng0494-409.

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