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Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation
A minority of inherited prion diseases (IPD) are caused by four to 12 extra octapeptide repeat insertions (OPRI) in the prion protein gene (PRNP). Only four families affected by IPD with 8-OPRI have been reported, one of them was a three-generation Swedish kindred in which four of seven affected sub...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Landes Bioscience
2013
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4201619/ https://ncbi.nlm.nih.gov/pubmed/24275071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/pri.27260 |
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