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Article

PLA2G6 variant in Parkinson's disease.

Journal of human genetics - 1 May 2011

Tomiyama Hiroyuki, Yoshino Hiroyo, Ogaki Kotaro, Li Lin, Yamashita Chikara, Li Yuanzhe, Funayama Manabu, Sasaki Ryogen, Kokubo Yasumasa, Kuzuhara Shigeki, Hattori Nobutaka

Abstract excerpt

PLA2G6 was reported recently as the causative gene for PARK14-linked autosomal recessive early-onset dystonia-parkinsonism. In a recent study in Singapore, heterozygous PLA2G6 p.P806R (c.2417C>G) mutation in exon 17 was reported to be a possible Parkinson's disease (PD)-related mutation. To determine the significance of the PLA2G6 mutation, we conducted an association study by performing direct sequencing of...

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PMID: 21368765
DOI: 10.1038/jhg.2011.22

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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