Article
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2004
Kamm Christoph, Leung Joanne, Joseph Soni, Dobyns William B, Brashear Alison, Breakefield Xandra O, Ozelius Laurie J
Abstract excerpt
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.
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