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Article

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.

Journal of medical genetics - 1 Oct 1995

Stevanin G, Cassa E, Cancel G, Abbas N, Dürr A, Jardim E, Agid Y, Sousa P S, Brice A

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Aged
Ataxin-3
Brazil
Female
Humans
Linkage Disequilibrium
Machado-Joseph Disease
Male
Middle Aged
Mutation
Nerve Tissue Proteins
Nuclear Proteins
Portugal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proteins

Repressor Proteins

Trinucleotide Repeats

Source

Open in PubMed Open full text

Identifiers

PMID: 8558567
DOI: 10.1136/jmg.32.10.827
PMCID: PMC1051713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Related research

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Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease.PMID 8558567Read ↗

A small 55-repeat MJD1 CAG allele in a patient with Machado-Joseph disease and abnormal eye movements.Semantic proximity Read ↗

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.Semantic proximity Read ↗

The genomic structure and expression of MJD, the Machado-Joseph disease geneSemantic proximity Read ↗

Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies.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 ↗

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events.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 ↗

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.Semantic proximity Read ↗

Genetic polymorphism of MJD1 alleles and molecular analysis of SCA3 patients from Rio de Janeiro, Brazil.Semantic proximity Read ↗

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 ↗

Machado-Joseph disease in three Scandinavian families.Semantic proximity Read ↗

Improvement in the molecular diagnosis of Machado-Joseph disease.Semantic proximity Read ↗

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