Danse-thérapie et Parkinson

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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 : 000385

Refined 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 :

RBID : ISTEX:AECCBF11D9B2053F887A0EBBA6FB4144243D3D70

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:


Links toward previous steps (curation, corpus...)


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