The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.

@article{Hedrich2001TheIO,
  title={The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.},
  author={Katja Hedrich and Martin Kann and Andrea Judith Lanthaler and Andreas Dalski and Cordula Eskelson and Olfert Landt and Eberhard Schwinger and P. Vieregge and Anthony E Lang and Xandra O Breakefield and Laurie Ozelius and Peter P. Pramstaller and Christine Klein},
  journal={Human molecular genetics},
  year={2001},
  volume={10 16},
  pages={1649-56}
}
Early-onset parkinsonism (EOP) may be associated with different mutations in the parkin gene, including exon deletions and duplications. To test for gene dosage alterations, we developed a new method of quantitative duplex PCR using the fluorescence resonance energy transfer technique on the LightCycler (Roche Diagnostics). In 21 patients with EOP, three mutations (a single base pair substitution in exon 3 and small deletions in exon 9) were detected by conventional mutational screening (single… CONTINUE READING
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