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New THAP1 mutation and role of putative modifier in TOR1A

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The prevalence of DYT1 (mutation in TOR1A) and DYT6 (mutation in THAP1) may vary in different populations, which can have important implications in clinical investigation. Our goal was to characterize… Click to show full abstract

The prevalence of DYT1 (mutation in TOR1A) and DYT6 (mutation in THAP1) may vary in different populations, which can have important implications in clinical investigation. Our goal was to characterize patients with inherited and isolated dystonia and determine the frequency of mutations responsible for DYT1 and DYT6 in Brazilian patients.

Keywords: thap1 mutation; mutation role; role putative; thap1; mutation; new thap1

Journal Title: Acta Neurologica Scandinavica
Year Published: 2017

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