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Article

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.

American journal of human genetics - 1 Jun 2007

Risch Neil J, Bressman Susan B, Senthil Geetha, Ozelius Laurie J

Abstract excerpt

A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain insight into genetic factors that may influence penetrance, we evaluated three DYT1 single-nucleotide polymorphisms, including D216H, a coding-sequence variation that moderates the effects of the DYT1 GAG deletion in cellular models. We tested DYT1 GAG-deletion...

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Identifiers

PMID: 17503336
DOI: 10.1086/518427
PMCID: PMC1867106

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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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