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DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c931ac2ba284462ba98f7f618edc37b9

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

About this item

Full title

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

Publisher

United States: Columbia University Libraries/Information Services

Journal title

Tremor and other hyperkinetic movements (New York, N.Y.), 2014-01, Vol.4, p.226

Language

English

Formats

Publication information

Publisher

United States: Columbia University Libraries/Information Services

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Several genes associated with dystonia have been identified. A mutation in one of these, THAP1 (DYT6), is linked to isolated dystonia. The aim of this study was to assess the prevalence of THAP1 gene mutations and the clinical characteristics of patients with these mutations in a clinical population in Brazil.
Seventy-four patients presenting wi...

Alternative Titles

Full title

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_c931ac2ba284462ba98f7f618edc37b9

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c931ac2ba284462ba98f7f618edc37b9

Other Identifiers

ISSN

2160-8288

E-ISSN

2160-8288

DOI

10.7916/D83776RC

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