Different origins of mutations at the Machado-Joseph locus (MJD1).
作者信息
Iughetti P, Zatz M, Bueno M R, Marie S K
出版信息
J Med Genet. 1996 May;33(5):439. doi: 10.1136/jmg.33.5.439.
Abstract
摘要
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Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Machado-Joseph病日本和白种人受试者中，MJD1基因CAG重复序列的代际不稳定性及侧翼标记保守单倍型的证据。
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The gene for Machado-Joseph disease maps to human chromosome 14q.马查多-约瑟夫病基因定位于人类14号染色体长臂。
Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.
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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。
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Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.MJD1基因内的三核苷酸重复在临床上表现为脊髓小脑共济失调，在德国脊髓小脑共济失调患者中最为常见。
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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
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Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.3型脊髓小脑共济失调与马查多-约瑟夫病的分子与临床关联
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