De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia.
Cannella
M
M
Martino
T
T
Simonelli
M
M
Ciammola
A
A
Gradini
R
R
Ciarmiello
A
A
Gianfrancesco
F
F
Squitieri
F
F
D000328:Adult; D001921:Brain / Q000378:metabolism; D003062:Codon / Q000235:genetics; D042622:DNA Repeat Expansion / Q000235:genetics*; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics*; D042241:Early Diagnosis; D019788:Fluorodeoxyglucose F18 / Q000493:pharmacokinetics; D005838:Genotype; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D049268:Positron-Emission Tomography; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics*; D019275:Radiopharmaceuticals / Q000493:pharmacokinetics
D003062:Codon; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D019275:Radiopharmaceuticals; D019788:Fluorodeoxyglucose F18