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Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991
See this aricle in Pubmed

Article Abstract
The codon 200 lysine mutation of the prion-protein gene is consistently present among Libyan Jews with Creutzfeldt-Jakob disease,strongly supporting a genetic pathogenesis of their illness.The similarity of the clinical courses of the patient homozygous for this mutation and the patients heterozygous for it argues that familial Creutzfeldt-Jakob disease is a true dominant disorder.
 
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degenerative diseases of CNS
dementia
dementia,transmissible
familial
genetic neurologic disorders
Jakob-Creutzfeldt disease
molecular genetics
polymerase chain reaction
prion disease

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