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Article

Mendelian segregation of normal CAG trinucleotide repeat alleles at three autosomal loci.

Journal of medical genetics - 1 Mar 1999

MacMillan J C, Voisey J, Healey S C, Martin N G

Abstract excerpt

Segregation ratio distortion (SRD) with preferential transmission of expanded CAG alleles has been reported in Machado-Joseph disease (MJD/SCA3), spinocerebellar ataxia type I (SCA1), and dentatorubral-pallidoluysian atrophy (DRPLA). We have examined the transmission frequencies of alleles in normal heterozygotes at these disease loci in 377 pairs of twins and their parents and find no evidence for SRD.

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Source

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Identifiers

PMID: 10204858
PMCID: PMC1734316

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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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