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Article

Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.

BMC infectious diseases - 22 Aug 2009

Choi Bo-Yeong, Kim Su Yeon, Seo So-Young, An Seong Soo A, Kim Sangyun, Park Sang-Eun, Lee Seung-Han, Choi Yun-Ju, Kim Sang-Jin, Kim Chi-Kyeong, Park Jun-Sun, Ju Young-Ran

Abstract excerpt

BACKGROUND: Polymorphisms of the human prion protein gene (PRNP) contribute to the genetic determinants of Creutzfeldt-Jakob disease (CJD). Numerous polymorphisms in the promoter regions as well as the open reading frame of PRNP were investigated. Greater than 90% of Korean, Chinese, and Japanese carry the homozygote 129 MM codon. In Korea, polymorphisms have not been comprehensively studied, except codons 129...

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Identifiers

PMID: 19698114
DOI: 10.1186/1471-2334-9-132
PMCID: PMC2749045

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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