Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative Disorders

Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10–15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP). The valine to isoleucine substitution at codon...

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Detalles Bibliográficos
Autores principales: Lee, Sol Moe, Chung, Myungguen, Hyeon, Jae Wook, Jeong, Seok Won, Ju, Young Ran, Kim, Heebal, Lee, Jeongmin, Kim, SangYun, An, Seong Soo A., Cho, Sung Beom, Lee, Yeong Seon, Kim, Su Yeon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920420/
https://www.ncbi.nlm.nih.gov/pubmed/27341347
http://dx.doi.org/10.1371/journal.pone.0157540

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