Jansen, Casper

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