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Article

Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).

Journal of human genetics - 1 Jan 2008

Bettencourt Conceição, Fialho Raquel Nunes, Santos Cristina, Montiel Rafael, Bruges-Armas Jácome, Maciel Patrícia, Lima Manuela

Abstract excerpt

Machado-Joseph disease (MJD) is caused by an expansion of a triplet repeat with a CAG motif at the ATXN3 gene. The putative segregation ratio distortion (SRD) of alleles can play an important role in the non-Mendelian behaviour of triplet repeat loci. To study the stability and infer the segregation patterns of wild-type MJD alleles, the size of the (CAG)(n) tract was analysed in 102 normal sibships, representing...

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Source

Identifiers

PMID: 18286225
DOI: 10.1007/s10038-008-0261-7

Genes

ATXN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal).PMID 18286225Read ↗

Analysis of segregation patterns in Machado-Joseph disease pedigrees.Semantic proximity Read ↗

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

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Allele-specific expression of <i>ATXN3</i> in blood samples of Machado-Joseph disease expansion carriersSemantic proximity Read ↗

Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3.Semantic proximity Read ↗

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

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

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