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De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia
Point and octapeptide repeat (24 bp) insertional mutations in the prion protein gene (PRNP) cause a dominantly transmitted dementia, associated with spongiform degeneration of the brain, astrocytic gliosis and neuronal loss due to cell accumulation of mutated protease resistant prion protein. The oc...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2009
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3029391/ https://ncbi.nlm.nih.gov/pubmed/21686668 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.08.2008.0711 |
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