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Article

THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.

Journal of neurology - 1 Feb 2012

Cheng Fu Bo, Ozelius Laurie J, Wan Xin Hua, Feng Jia Chun, Ma Ling Yan, Yang Ying Mai, Wang Lin

Abstract excerpt

Mutations in the THAP1 gene were recently identified as the cause of DYT6 primary dystonia. More than 40 mutations in this gene have been described in different populations. However, no previous report has identified sequence variations that affect the transcript process of the THAP1 gene. In addition, the mutation frequency in Chinese early-onset primary dystonia has not been well characterized. One hundred and...

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Source

Identifiers

PMID: 21800139
DOI: 10.1007/s00415-011-6196-5

Genes

THAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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