Identification and functional analysis of novel THAP1 mutations.

doi:10.1038/ejhg.2011.159

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Article

Identification and functional analysis of novel THAP1 mutations.

European journal of human genetics : EJHG - 1 Feb 2012

Lohmann Katja, Uflacker Nils, Erogullari Alev, Lohnau Thora, Winkler Susen, Dendorfer Andreas, Schneider Susanne A, Osmanovic Alma, Svetel Marina, Ferbert Andreas, Zittel Simone, Kühn Andrea A, Schmidt Alexander, Altenmüller Eckart, Münchau Alexander, Kamm Christoph, Wittstock Matthias, Kupsch Andreas, Moro Elena, Volkmann Jens, Kostic Vladimir, Kaiser Frank J, Klein Christine, Brüggemann Norbert

Abstract excerpt

Mutations in THAP1 have been associated with dystonia 6 (DYT6). THAP1 encodes a transcription factor that represses the expression of DYT1. To further evaluate the mutational spectrum of THAP1 and its associated phenotype, we sequenced THAP1 in 567 patients with focal (n = 461), segmental (n = 68), or generalized dystonia (n = 38). We identified 10 novel variants, including six missense substitutions within the...

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Identifiers

PMID: 21847143
DOI: 10.1038/ejhg.2011.159
PMCID: PMC3260936

Genes

THAP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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