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 Ligh...
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