Genetic factors are thought to play an important role in the pathogenesis of Parkinson's disease (PD), particularly early-onset PD. The 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 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 gene.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6942881 | PMC |
| http://dx.doi.org/10.1155/2019/9024894 | DOI Listing |
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