Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease.

Abstract excerpt

Inherited prion diseases are characterized by mutations in the PRNP gene, which account for 5-15% of human prion diseases. Here we reported 3 Chinese genetic Creutzfeldt-Jacob disease cases (gCJD) with a rare mutation in PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A) at codon 196 (E196A). All three patients were Han Chinese without any sibship among them. They showed various...

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