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Article

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.

Proceedings of the National Academy of Sciences of the United States of America - 2 Sept 2003

Nolte Dagmar, Niemann Stephan, Müller Ulrich

Abstract excerpt

X-linked dystonia parkinsonism (XDP) is an X-linked recessive adult onset movement disorder characterized by both dystonia and parkinsonism. We report delineation of the disease gene within a 300-kb interval of Xq13.1 by allelic association. Sequencing of this region in a patient revealed five disease-specific single-nucleotide changes (here referred to as DSC) and a 48-bp deletion unique to XDP. One of the DSCs...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Membrane Transport Proteins

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Source

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Identifiers

PMID: 12928496
DOI: 10.1073/pnas.1831949100
PMCID: PMC193564

Genes

DSC3
ING2
TAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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