Novel compound heterozygous of PARKIN causes early-onset Parkinson’s disease
Neuroscience Letters(2021)
摘要
•We found a novel form of compound heterozygous mutation in PARKIN, which causes EOPD.•The novel form of compound heterozygous mutation consists of c.735−1G > A and Ex2del.•Tiny differences in genotypes of PARKIN may lead to huge phenotypic differences.
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关键词
PARKIN,Genetic variants,Whole-exome sequencing,Early-onset Parkinson’s disease
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