Yeni Bileşik Heterozigot ⁇ i>PRKN ⁇ /i> Erken Onset Parkinson Hastalığı olan Han-Çin Ailesinde Varyantlar.

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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. 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.

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