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Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD.… Click to show full abstract
Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.
Keywords:
early onset;
disease;
novel compound;
prkn;
parkinson disease
Journal Title: Parkinson's Disease
Year Published: 2019
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Journal Title: Parkinson's Disease
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!