Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
Identifieur interne : 000384 ( Main/Exploration ); précédent : 000383; suivant : 000385Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
Auteurs : Christoph Kamm [États-Unis, Allemagne] ; Joanne Leung [États-Unis] ; Soni Joseph [États-Unis] ; William B. Dobyns [États-Unis] ; Alison Brashear [États-Unis] ; Xandra O. Breakefield [États-Unis] ; Laurie J. Ozelius [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-07.
English descriptors
Abstract
By examining two previously described families with rapid‐onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20095
Affiliations:
- Allemagne, États-Unis
- Illinois, Indiana, Massachusetts, État de New York
- Chicago
- Université de Chicago
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 000201
- to stream Istex, to step Curation: 000128
- to stream Istex, to step Checkpoint: 000158
- to stream Main, to step Merge: 000385
- to stream Main, to step Curation: 000384
Le document en format XML
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<front><div type="abstract" xml:lang="en">By examining two previously described families with rapid‐onset dystonia parkinsonism, we have identified a key recombination event that places the disease locus (DYT12) into a 5.9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations. © 2004 Movement Disorder Society</div>
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