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Article

Early-Onset Parkinson's Disease and Brain Iron Accumulation Caused by a Novel Homozygous DJ-1 Mutation.

Journal of Parkinson's disease - 1 Jan 2022

Lin Rong-Rong, Tao Qing-Qing, Wu Zhi-Ying

Abstract excerpt

DJ-1 mutations are rare causes of autosomal recessive early-onset Parkinson's disease (AR-EOPD) and relatively rarely reported in the Chinese population. Here, we used the whole-exome sequencing and Sanger sequencing to investigate DJ-1 mutations in the Chinese population and confirmed the pathogenicity of the mutation using primary fibroblasts established from skin biopsies. We identified a novel homozygous...

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PMID: 35124661
DOI: 10.3233/JPD-213033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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