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Article

Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene.

Human genetics - 1 Dec 1996

Matsumura R, Takayanagi T, Murata K, Futamura N, Hirano M, Ueno S

Abstract excerpt

The mutation responsible for Machado-Joseph disease (MJD) has been identified as an expansion of a CAG trinucleotide repeat in a novel gene on chromosome 14q32.1. The CAG repeat tract is followed by C or G, and alleles are thereby divided into two types on the basis of molecular configuration, (CAG)nC and (CAG)nG. We have studied the relationship between the repeat length and the configuration in 38 patients from...

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Identifiers

PMID: 8931692
DOI: 10.1007/s004390050276

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene.PMID 8931692Read ↗

CAG repeat expansion of Machado-Joseph disease in the Japanese: analysis of the repeat instability for parental transmission, and correlation with disease phenotype.Semantic proximity Read ↗

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.Semantic proximity Read ↗

Variation in the number of CAG repeats in the Machado-Joseph disease gene (MJD1) in the Japanese population.Semantic proximity Read ↗

The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Analysis of CAG repeat of the Machado-Joseph gene in human, chimpanzee and monkey populations: a variant nucleotide is associated with the number of CAG repeats.Semantic proximity Read ↗

The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.Semantic proximity Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction.Semantic proximity Read ↗

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract.Semantic proximity Read ↗

Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease.Semantic proximity Read ↗

Regional and cellular expression of the Machado-Joseph disease gene in brains of normal and affected individuals.Semantic proximity Read ↗

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