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Article

Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.

European journal of human genetics : EJHG - 1 Oct 2004

Yu Shui-Liang, Jin Lei, Sy Man-Sun, Mei Fang-Hua, Kang Shu-Li, Sun Gui-Hong, Tien Po, Wang Fu-Sheng, Xiao Geng-Fu

Abstract excerpt

The two common polymorphisms (385A > G: M129V and 655G > A: E219 K) in the human prion gene (PRNP) play important roles in the pathogenesis of Creutzfeldt-Jakob diseases. We screened a total of 626 individuals, who represent three ethnic populations of China, Han, Hui, and Uyghur, for the two polymorphisms. The frequencies of M/M homozygote at residue 129 in these three groups differ significantly. The Han has a...

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Identifiers

PMID: 15266305
DOI: 10.1038/sj.ejhg.5201245

Genes

PRNP

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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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