Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
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DOI: 10.1002/acn3.568
Abstract: 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.… read more here.
Keywords: broaden spectrum; truncating mutations; mutations broaden; novel prnp ... See more keywords