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Article

Preimplantation genetic diagnosis of spinocerebellar ataxia 3 by (CAG)(n) repeat detection.

Molecular human reproduction - 1 Jan 2004

Drüsedau M, Dreesen J C F M, De Die-Smulders C, Hardy K, Bras M, Dumoulin J C M, Evers J L H, Smeets H J M, Geraedts J P M, Herbergs J

Abstract excerpt

Spinocerebellar ataxia 3 (SCA3) is an autosomal dominant neurodegenerative disorder characterized by variable expression and a variable age of onset. SCA3/MJD (Machado-Joseph disease) is caused by an expansion of a (CAG)(n) repeat in the MJD1 gene on chromosome 14q32.1. A single cell PCR protocol...

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PMID: 14665709
DOI: 10.1093/molehr/gah008

Genes

ADO
PGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-14665709-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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