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Article

Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect.

Human mutation - 1 Nov 2009

Tan Eng-King, Refai F Shaffra, Siddique Mobin, Yap Karen, Ho Patrick, Fook-Chong Stephanie, Zhao Yi

Abstract excerpt

Mutations in the gene encoding phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1) have been associated with the loss of dopaminergic neurons characteristic of familial and sporadic Parkinson disease. We developed an in vitro system of stable human dopaminergic neuronal cell lines coexpressing an equivalent copy of normal and mutant PINK1 to simulate "heterozygous" and "homozygous" states in patients....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19847793
DOI: 10.1002/humu.21108

Genes

PINK1
PTEN

Provenance

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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Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect.PMID 19847793Read ↗

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