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Article

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.

Annals of neurology - 1 Aug 2003

Hague Stephen, Rogaeva Ekaterina, Hernandez Dena, Gulick Cindy, Singleton Amanda, Hanson Melissa, Johnson Janel, Weiser Roberto, Gallardo Marisol, Ravina Bernard, Gwinn-Hardy Katrina, Crawley Anthony, St George-Hyslop Peter H, Lang Anthony E, Heutink Peter, Bonifati Vincenzo, Hardy John, Singleton Andrew

Abstract excerpt

Mutations in DJ-1 have been linked to an autosomal recessive form of early-onset parkinsonism. To identify mutations causing Parkinson's disease (PD), we sequenced exons 1 through 7 of DJ-1 in 107 early-onset (age at diagnosis up to 50 years) PD subjects. One subject had a frameshift mutation in...

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Identifiers

PMID: 12891685
DOI: 10.1002/ana.10663

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12891685-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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