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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2009-4-20
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pubmed:abstractText |
Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent. To assess more broadly the role of this gene, we screened for mutations in families that included one family member who had early-onset, non-focal primary dystonia.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
1474-4422
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
441-6
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:19345147-Adolescent,
pubmed-meshheading:19345147-Adult,
pubmed-meshheading:19345147-Age of Onset,
pubmed-meshheading:19345147-Amino Acid Sequence,
pubmed-meshheading:19345147-Apoptosis Regulatory Proteins,
pubmed-meshheading:19345147-Child,
pubmed-meshheading:19345147-Child, Preschool,
pubmed-meshheading:19345147-DNA Mutational Analysis,
pubmed-meshheading:19345147-DNA-Binding Proteins,
pubmed-meshheading:19345147-Dystonia,
pubmed-meshheading:19345147-Family,
pubmed-meshheading:19345147-Female,
pubmed-meshheading:19345147-Genetic Testing,
pubmed-meshheading:19345147-Heterozygote,
pubmed-meshheading:19345147-Humans,
pubmed-meshheading:19345147-Male,
pubmed-meshheading:19345147-Middle Aged,
pubmed-meshheading:19345147-Molecular Sequence Data,
pubmed-meshheading:19345147-Mutation,
pubmed-meshheading:19345147-Nuclear Proteins,
pubmed-meshheading:19345147-Pedigree,
pubmed-meshheading:19345147-Phenotype,
pubmed-meshheading:19345147-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
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pubmed:affiliation |
Department of Neurology, Beth Israel Medical Center, New York, NY 10003, USA. sbressma@chpnet.org
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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