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- W2016291261 abstract "We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ⩽40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT (p.C212/X224) and c.815C>G (p.C238W). Genotype–phenotype correlation revealed that parkin carriers had features similar to those of non-carrier early onset Parkinson disease patients." @default.
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- W2016291261 date "2008-05-01" @default.
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- W2016291261 title "Parkin analysis in early onset Parkinson's disease" @default.
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- W2016291261 doi "https://doi.org/10.1016/j.parkreldis.2007.10.003" @default.
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