Article
The influence of PRNP polymorphisms on human prion disease susceptibility: an update.
Acta neuropathologica - 1 Aug 2015
Kobayashi Atsushi, Teruya Kenta, Matsuura Yuichi, Shirai Tsuyoshi, Nakamura Yoshikazu, Yamada Masahito, Mizusawa Hidehiro, Mohri Shirou, Kitamoto Tetsuyuki
Abstract excerpt
Two normally occurring polymorphisms of the human PRNP gene, methionine (M)/valine (V) at codon 129 and glutamic acid (E)/lysine (K) at codon 219, can affect the susceptibility to prion diseases. It has long been recognized that 129M/M homozygotes are overrepresented in sporadic Creutzfeldt-Jakob disease (CJD) patients and variant CJD patients, whereas 219E/K heterozygotes are absent in sporadic CJD patients. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.