Article
The phenotypic expression of different mutations in transmissible familial Creutzfeldt-Jakob disease.
European journal of epidemiology - 1 Sept 1991
Brown P, Goldfarb L G, Gibbs C J, Gajdusek D C
Abstract excerpt
Cases of familial Creutzfeldt-Jakob disease (CJD) with mutations in the PRNP gene were analyzed for distinctive clinico-pathological and experimental transmission characteristics. An insert mutation within the region of codons 51 to 91 was associated with a markedly early age at onset and prolonged course of illness. Point mutations at codons 178 and 200 were also associated with ages at onset, durations of...
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