Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene ( PRNP) and a 17 kDa prion protein fragment.

Bibliographic Details
Title: Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene ( PRNP) and a 17 kDa prion protein fragment.
Authors: B.-H. Jeong, Y.-C. Jeon, Y.-J. Lee, H.-J. Cho, S.-J. Park, D.-I. Chung, J. Kim, S. H. Kim, H.-T. Kim, E.-K. Choi, K.-C. Choi, R. I. Carp, Y.-S. Kim
Source: Neuropathology & Applied Neurobiology; Oct2010, Vol. 36 Issue 6, p558-563, 6p, 1 Color Photograph, 1 Black and White Photograph, 1 Graph
Subject Terms: CREUTZFELDT-Jakob disease, PRION diseases, GENETIC polymorphisms, GENETIC mutation, GENEALOGY, PATIENTS
Abstract: The article presents a study of Creutzfeldt-Jakob disease (CJD) with the V203I mutation and M129V polymorphism of the prion protein gene ( PRNP) and a 17 kDa prion protein fragment. It states that Creutzfeldt-Jakob disease associated with the V203I mutation was first described with clinical and pathological aspects in a 69-year old Italian man who was homozygous for Met at codon 129 of PRNP.
Database: Complementary Index
More Details
ISSN:03051846
DOI:10.1111/j.1365-2990.2010.01094.x
Published in:Neuropathology & Applied Neurobiology
Language:English