A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature. [electronic resource]
- Acta neuropathologica Jan 2011
- 59-68 p. digital
Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review
1432-0533
10.1007/s00401-010-0656-3 doi
Amino Acid Sequence Base Sequence DNA Repeat Expansion--genetics Female Gerstmann-Straussler-Scheinker Disease--genetics Humans Male Middle Aged Mutagenesis, Insertional Netherlands Oligopeptides--chemistry Pedigree Phenotype Prion Proteins Prions--chemistry