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. 2007 Jan;8(1):51-5.
doi: 10.1007/s10048-006-0069-6. Epub 2006 Nov 17.

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

Daniela Steinberger  1 , Jutta Trübenbach, Birgit Zirn, Barbara Leube, Gabriele Wildhardt, Ulrich Müller
Affiliations

Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia

Daniela Steinberger et al. Neurogenetics. 2007 Jan.

Erratum in

  • Neurogenetics. 2007 Jan;8(1):69

Abstract

We applied multiple ligation-dependent probe amplification (MLPA) to patients from three families with characteristic dopa-responsive dystonia (DRD) but no base change in the gene GCH1. We found a complete deletion of GCH1 in affected members of family 1, and partial deletions in affected individuals of family 2 (exons 4-6) and of family 3 (exons 2-6). The findings were confirmed by quantitative real-time PCR. Our investigations demonstrate the utility of MLPA for routine deletion analysis of GCH1 in DRD patients with no sequence changes in this gene.

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