NR AJDB
AU Owen,F.; Poulter,M.; Shah,T.; Collinge,J.; Lofthouse,R.; Baker,H.F.; Ridley,R.; McVey,J.; Crow,T.J.
TI An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease
QU Brain Research. Molecular Brain Research 1990 Apr; 7(3): 273-6
PT journal article
AB In a pedigree with Creutzfeldt-Jakob disease we identified a 144-bp insertion in the open reading frame of the prion protein (PrP) gene. The insertion is in-frame and codes for 6 extra uninterrupted octapeptide repeats in addition to the 5 that are normally present in the N-terminal region of the protein. The possibility that this mutation may prove relevant to elucidating the mechanism of horizontal transmission of the spongiform encephalopathies is discussed.
MH Amino Acid Sequence; Base Sequence; Creutzfeldt-Jakob Syndrome/*genetics; *DNA Transposable Elements; Human; Molecular Sequence Data; Prions/*genetics; Support, Non-U.S. Gov't
AD Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, U.K.
SP englisch
PO Niederlande