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.
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The gene for Machado-Joseph disease maps to human chromosome 14q.
Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300.
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A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
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The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2.
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Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients.
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Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.
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Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
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Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
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Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.
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