Identification of a novel genetic locus underlying tremor and dystonia
Identification of a novel genetic locus underlying tremor and dystonia
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Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Five affected individuals with syndromic tremulous dystonia, spasticity, and white matter disease from a consanguineous extended family covering a period of over 24 years are presented. A positional cloning approach utilizing genome-wide linkage, homozygozity mapping and whole exome sequencing was used for genetic characterization. The impact of a...
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Full title
Identification of a novel genetic locus underlying tremor and dystonia
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TN_cdi_doaj_primary_oai_doaj_org_article_5b7cbc4813c3447b8ee52ae99170fc61
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5b7cbc4813c3447b8ee52ae99170fc61
Other Identifiers
ISSN
1479-7364,1473-9542
E-ISSN
1479-7364
DOI
10.1186/s40246-017-0123-5
