Machado-Joseph病基因纯合性会加重表型严重程度。 - Suppr

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超能文献

Homozygosity for Machado-Joseph disease gene enhances phenotypic severity.

作者信息

Sobue G, Doyu M, Nakao N, Shimada N, Mitsuma T, Maruyama H, Kawakami S, Nakamura S

出版信息

J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):354-6. doi: 10.1136/jnnp.60.3.354-a.

DOI:10.1136/jnnp.60.3.354-a

PMID:8609529

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1073875/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1f79/1073875/4034178ae186/jnnpsyc00015-0106-a.jpg

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本文引用的文献

Homozygous inheritance of the Machado-Joseph disease gene.马查多-约瑟夫病基因的纯合子遗传

Ann Neurol. 1994 Sep;36(3):443-7. doi: 10.1002/ana.410360318.

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.14号染色体长臂32.1区马查多-约瑟夫病新基因中的CAG重复序列扩增。

Nat Genet. 1994 Nov;8(3):221-8. doi: 10.1038/ng1194-221.

Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.马查多-约瑟夫病的CAG重复序列的分子特征及临床表现

Hum Mol Genet. 1995 May;4(5):807-12. doi: 10.1093/hmg/4.5.807.

Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease.佩利措伊斯-梅茨巴赫病中蛋白脂蛋白基因剂量效应

Nat Genet. 1994 Apr;6(4):333-4. doi: 10.1038/ng0494-333.

The pathology of Machado-Joseph disease. Report of a possible homozygous case.

Acta Neuropathol. 1982;58(1):48-54. doi: 10.1007/BF00692697.

Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands.约瑟夫病：一种在美国葡萄牙裔和亚速尔群岛人群中出现的常染色体显性神经疾病。

Adv Neurol. 1978;21:33-57.

Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy.

Ann Neurol. 1979 Jun;5(6):515-22. doi: 10.1002/ana.410050604.

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