NR AJCX
AU Owen,F.; Poulter,M.; Collinge,J.; Leach,M.; Lofthouse,R.; Crow,T.J.; Harding,A.E.
TI A dementing illness associated with a novel insertion in the prion protein gene
QU Brain Research. Molecular Brain Research 1992 Mar; 13(1-2): 155-7
PT journal article
AB Following our previous report of an 144-bp insertion in the open reading frame of the prion protein (PrP) gene, we have now identified a larger, 216-bp, insertion in the gene. The insertion which is in frame encodes 9 extra octapeptide repeat sequences in addition to the 5 repeats normally present and represents the largest insertion so far detected in the PrP gene.
MH Alleles; Amino Acid Sequence; Base Sequence; Case Report; Codon/genetics; Creutzfeldt-Jakob Syndrome/*genetics/pathology; *DNA Transposable Elements; Female; *Genes, Viral; Human; Middle Age; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; *Open Reading Frames; Polymerase Chain Reaction; PrPsc Proteins; Prions/*genetics
AD Department of Physiological Sciences, University of Manchester, U.K.
SP englisch
PO Niederlande