Predictive testing for inherited prion disease: report of 22 years experience

The inherited prion diseases (IPD) are a group of untreatable neurodegenerative diseases that segregate as autosomal dominant traits. Mutations in the prion protein gene (PRNP) were first found to be causal of IPD in 1989, before the molecular genetic characterisation of any other neurodegenerative...

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Bibliografiska uppgifter
Huvudupphovsmän: Owen, Jane, Beck, Jon, Campbell, Tracy, Adamson, Gary, Gorham, Michele, Thompson, Andrew, Smithson, Sarah, Rosser, Elizabeth, Rudge, Peter, Collinge, John, Mead, Simon
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2014
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4091984/
https://ncbi.nlm.nih.gov/pubmed/24713662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.42
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