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Article

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.

The Lancet. Neurology - 1 May 2009

Bressman Susan B, Raymond Deborah, Fuchs Tania, Heiman Gary A, Ozelius Laurie J, Saunders-Pullman Rachel

Abstract excerpt

BACKGROUND: Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent. To assess more broadly the role of this gene, we screened for...

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Identifiers

PMID: 19345147
DOI: 10.1016/S1474-4422(09)70081-X
PMCID: PMC3712754

Genes

THAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19345147-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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