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Genetic prion disease: D178N with 129MV disease modifying polymorphism—a clinical phenotype

BACKGROUND: Human prion diseases are a group of rare neurological diseases with a minority due to genetic mutations in the prion protein (PRNP) gene. The D178N mutation is associated with both Creutzfeldt-Jakob disease and fatal familial insomnia with the phenotype modified by a polymorphism at codo...

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Detalles Bibliográficos
Autores principales:	Tan, Tracie Huey-Lin, Stark, Richard J, Waterston, John A, White, Owen, Thyagarajan, Dominic, Monif, Mastura
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2020
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871715/ https://www.ncbi.nlm.nih.gov/pubmed/33681799 http://dx.doi.org/10.1136/bmjno-2020-000074

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