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Article

Mutation screening of the DYT6/THAP1 gene in Italy.

Movement disorders : official journal of the Movement Disorder Society - 15 Dec 2009

Bonetti Monica, Barzaghi Chiara, Brancati Francesco, Ferraris Alessandro, Bellacchio Emanuele, Giovanetti Alessandro, Ialongo Tamara, Zorzi Giovanna, Piano Carla, Petracca Martina, Albanese Alberto, Nardocci Nardo, Dallapiccola Bruno, Bentivoglio Anna Rita, Garavaglia Barbara, Valente Enza Maria

Abstract excerpt

Mutations in the THAP1 gene on chromosome 8p21-p22 (DYT6 locus) have been recently reported as causative of autosomal dominant primary torsion dystonia (PTD) in four Amish-Mennonite families and in 12 additional probands of different ancestry. We sequenced the THAP1 gene in 158 patients with DYT1...

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Source

Identifiers

PMID: 19908325
DOI: 10.1002/mds.22861

Genes

THAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19908325-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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