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Article

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.

Genomics - 15 Dec 1999

Ozelius L J, Page C E, Klein C, Hewett J W, Mineta M, Leung J, Shalish C, Bressman S B, de Leon D, Brin M F, Fahn S, Corey D P, Breakefield X O

Abstract excerpt

Most cases of early onset torsion dystonia are caused by a 3-bp deletion (GAG) in the coding region of the TOR1A gene (alias DYT1, DQ2), resulting in loss of a glutamic acid in the carboxy terminal of the encoded protein, torsin A. TOR1A and its homologue TOR1B (alias DQ1) are located adjacent to...

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Identifiers

PMID: 10644435
DOI: 10.1006/geno.1999.6039

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10644435-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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