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Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.

Human molecular genetics - 1 Oct 2015

Huttenlocher Johanna, Stefansson Hreinn, Steinberg Stacy, Helgadottir Hafdis T, Sveinbjörnsdóttir Sigurlaug, Riess Olaf, Bauer Peter, Stefansson Kari

Abstract excerpt

Together with point mutations, homozygous deletions or duplications in PARK2 are responsible for the majority of autosomal recessive juvenile Parkinsonism. It is debated, however, whether heterozygous carriers of these mutations are at increased risk of Parkinson's disease (PD). Our goal was to determine whether heterozygous carriers of copy number variants (CNVs) affecting exons of the PARK2 gene are at risk of...

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PMID: 26188007
DOI: 10.1093/hmg/ddv277

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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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