Cargando…
Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients
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 ca...
Autores principales: | 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 |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2009
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749045/ https://www.ncbi.nlm.nih.gov/pubmed/19698114 http://dx.doi.org/10.1186/1471-2334-9-132 |
Ejemplares similares
-
miR-129-5p as a biomarker for pathology and cognitive decline in Alzheimer’s disease
por: Han, Sang-Won, et al.
Publicado: (2023) -
Genetic prion disease: D178N with 129MV disease modifying polymorphism—a clinical phenotype
por: Tan, Tracie Huey-Lin, et al.
Publicado: (2020) -
Hydrocephalus in a Patient with Alzheimer's Disease
por: Kang, Min Ju, et al.
Publicado: (2018) -
Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases
por: Bagyinszky, Eva, et al.
Publicado: (2018) -
Prion Protein Expression and Processing in Human Mononuclear Cells: The Impact of the Codon 129 Prion Gene Polymorphism
por: Segarra, Christiane, et al.
Publicado: (2009)