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Article

Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families.

Clinical genetics - 1 Aug 2003

Carmona J, Burguera J A, Mollà B, Mulas F, Smeyers P, Carratalà F, De Yebenes J G, Hoenicka J, Palau F

Abstract excerpt

Mutations in the DYT1 gene cause idiopathic torsion dystonia (ITD) transmitted in families as an autosomal dominant trait with incomplete penetrance. The most common mutation, 946delGAG, has been observed in populations with different ethnic and geographic origins. We have investigated 40 individ...

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Share to Chromosomes, Human, Pair 9
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Identifiers

PMID: 12859412
DOI: 10.1034/j.1399-0004.2003.00084.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12859412-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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