Article
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
Human molecular genetics - 1 Aug 2001
Hedrich K, Kann M, Lanthaler A J, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang A E, Breakefield X O, Ozelius L J, Pramstaller P P, Klein C
Abstract excerpt
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...
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