De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia. [electronic resource]
- Journal of neurology, neurosurgery, and psychiatry Dec 2007
- 1411-3 p. digital
Publication Type: Case Reports; Letter
1468-330X
10.1136/jnnp.2007.121137 doi
Adult Brain--metabolism Codon--genetics DNA Repeat Expansion--genetics Dementia--diagnosis Early Diagnosis Fluorodeoxyglucose F18--pharmacokinetics Genotype Humans Italy Magnetic Resonance Imaging Male Pedigree Point Mutation--genetics Polymorphism, Single Nucleotide--genetics Positron-Emission Tomography Prion Proteins Prions--genetics Radiopharmaceuticals--pharmacokinetics