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Article

Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients.

Human mutation - 1 May 2004

Djarmati Ana, Hedrich Katja, Svetel Marina, Schäfer Nora, Juric Vladislava, Vukosavic Slobodanka, Hering Robert, Riess Olaf, Romac Stanka, Klein Christine, Kostic Vladimir

Abstract excerpt

Mutations in the Parkin (PARK2) and the DJ1 (PARK7) gene cause early-onset Parkinson disease (EOPD). We tested 75 Serbian EOPD patients for mutations in both genes by conventional mutational screening (SSCP/dHPLC/sequencing) to detect small sequence alterations and by gene dosage studies (quantitative PCR) to reveal deletions or multiplications of one or more exons. A compound heterozygous Parkin mutation (exon...

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Source

Identifiers

PMID: 15108293
DOI: 10.1002/humu.9240

Genes

PARK7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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