Article
Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences - 29 Mar 1994
Gabizon R, Rosenman H, Meiner Z, Kahana I, Kahana E, Shugart Y, Ott J, Prusiner S B
Abstract excerpt
Various mutations in the prion protein (PrP) gene are associated with Creutzfeldt-Jakob disease (CJD), a transmissible fatal neurodegenerative disorder. Among Libyan Jews, CJD is a familial disease with an incidence about 100 times higher than the worldwide population. CJD in this community segregates with a point mutation at codon 200 of the PrP gene which causes the substitution of lysine for glutamate. This...
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