Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson's Disease.

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. PMID: 31929871 [PubMed]
Source: Parkinsons Disease - Category: Neurology Tags: Parkinsons Dis Source Type: research