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Article

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control.

Journal of medical genetics - 1 Jun 2009

Brooks J, Ding J, Simon-Sanchez J, Paisan-Ruiz C, Singleton A B, Scholz S W

Abstract excerpt

BACKGROUND: Mutations in parkin and PTEN-induced protein kinase (PINK1) represent the two most common causes of autosomal recessive parkinsonism. The possibility that heterozygous mutations in these genes also predispose to disease or lower the age of disease onset has been suggested, but currently there is insufficient data to verify this hypothesis conclusively. OBJECTIVE: To study the frequency and spectrum of...

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Source

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Identifiers

PMID: 19351622
DOI: 10.1136/jmg.2008.063917
PMCID: PMC4767009

Genes

PINK1
PTEN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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