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Estimation of the number of inherited prion disease mutation carriers in the UK

Inherited prion diseases (IPD) are a set of rare neurodegenerative diseases that are always caused by mutation of the prion protein gene (PRNP). These are highly heterogeneous in clinical presentation and best described by the specific gene mutation, but traditionally include the canonical syndromes...

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Detalles Bibliográficos
Autores principales: Corbie, Rosie, Campbell, Tracy, Darwent, Lee, Rudge, Peter, Collinge, John, Mead, Simon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9553982/
https://www.ncbi.nlm.nih.gov/pubmed/35754056
http://dx.doi.org/10.1038/s41431-022-01132-8