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Article

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

European journal of human genetics : EJHG - 1 May 2010

Bettencourt Conceição, Santos Cristina, Montiel Rafael, Kay Teresa, Vasconcelos João, Maciel Patrícia, Lima Manuela

Abstract excerpt

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)(n) motif within exon 10 of the ATXN3 gene, located at 14q32.1. The variance in onset of MJD is only partially correlated (approximately 50-80%) with the extension of the CAG tract in...

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Source

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Identifiers

PMID: 19935829
DOI: 10.1038/ejhg.2009.215
PMCID: PMC2987309

Genes

ATXN3

Provenance

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Related research

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The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls.PMID 19935829Read ↗

Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3).Semantic proximity Read ↗

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Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.Semantic proximity Read ↗

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph diseaseSemantic proximity Read ↗

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Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.Semantic proximity Read ↗

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Transcript diversity of Machado-Joseph disease gene (ATXN3) is not directly determined by SNPs in exonic or flanking intronic regions.Semantic proximity Read ↗

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