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Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop‐codon mutations (p.Y163X, p.Y169X) in two Italian kindreds. Disease typically presented in the...
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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5989776/ https://ncbi.nlm.nih.gov/pubmed/29928661 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.568 |
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