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Novel compound heterozygous of PARKIN causes early-onset Parkinson's disease.

Neuroscience letters - 23 Jan 2021

Yu Li-Hua, Peng Guo-Ping, Yuan Yuan, Liu Xiao-Yan, Ji Fang, Li Yi, He Fang-Ping, Luo Ben-Yan, Ke Qing

Abstract excerpt

Genetics has an essential role in the development of early-onset Parkinson's disease (EOPD). Consequently, genetic screening is of great significance for the diagnosis and treatment of EOPD. In this study, we reported two EOPD with compound heterozygous in PARKIN detected by whole-exome sequencing (WES) and ligation-dependent probe amplification (MLPA). Two unrelated EOPD patients and their parents were enrolled...

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Identifiers

PMID: 33373675
DOI: 10.1016/j.neulet.2020.135597

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