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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
1997-11-7
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pubmed:abstractText |
The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.
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pubmed:grant |
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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 |
Oct
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pubmed:issn |
0364-5134
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pubmed:author |
pubmed-author:AlmasyLL,
pubmed-author:BressmanS BSB,
pubmed-author:BrinM FMF,
pubmed-author:ChouinardSS,
pubmed-author:FahnSS,
pubmed-author:GOODA CAC,
pubmed-author:GreeneP EPE,
pubmed-author:HeimanG AGA,
pubmed-author:JonesA CAC,
pubmed-author:KapoorR PRP,
pubmed-author:KramerP LPL,
pubmed-author:NygaardT GTG,
pubmed-author:RaymondDD,
pubmed-author:RischN JNJ,
pubmed-author:Saunders-PullmanRR,
pubmed-author:ShenHH,
pubmed-author:YountJJ,
pubmed-author:de LeonDD
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pubmed:issnType |
Print
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pubmed:volume |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
670-3
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:9382482-Adolescent,
pubmed-meshheading:9382482-Adult,
pubmed-meshheading:9382482-Child,
pubmed-meshheading:9382482-Child, Preschool,
pubmed-meshheading:9382482-Christianity,
pubmed-meshheading:9382482-Chromosomes, Human, Pair 8,
pubmed-meshheading:9382482-Dystonia Musculorum Deformans,
pubmed-meshheading:9382482-Ethnic Groups,
pubmed-meshheading:9382482-Female,
pubmed-meshheading:9382482-Genetic Markers,
pubmed-meshheading:9382482-Haplotypes,
pubmed-meshheading:9382482-Humans,
pubmed-meshheading:9382482-Male,
pubmed-meshheading:9382482-Pedigree,
pubmed-meshheading:9382482-Recombination, Genetic
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pubmed:year |
1997
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pubmed:articleTitle |
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
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pubmed:affiliation |
Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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