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- Title
Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.
- Authors
Fan, Kuan; Hu, Pengzhi; Song, Chengyuan; Deng, Xiong; Wen, Jie; Liu, Yiming; Deng, Hao
- 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.
- Subjects
CHINA; ENZYME analysis; PARKINSON'S disease diagnosis; PARKINSON'S disease &; genetics; AGE factors in disease; GENES; MEDICAL research; GENETIC mutation; PARKINSON'S disease; GENETIC testing
- Publication
Parkinson's Disease (20420080), 2019, p1
- ISSN
2090-8083
- Publication type
Article
- DOI
10.1155/2019/9024894