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. 1990 Apr;7(3):273-6.
doi: 10.1016/0169-328x(90)90038-f.

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

F Owen  1 , M Poulter, T Shah, J Collinge, R Lofthouse, H Baker, R Ridley, J McVey, T J Crow
Affiliations

An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease

F Owen et al. Brain Res Mol Brain Res. 1990 Apr.

Abstract

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.

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