Article
Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?
Neuroscience letters - 7 Jan 2000
Helisalmi S, Hiltunen M, Mannermaa A, Koivisto A M, Lehtovirta M, Alafuzoff I, Ryynänen M, Soininen H
Abstract excerpt
Nearly all of the presenilin-1 (PSEN-1) mutations are missense mutations leading to Alzheimer's disease (AD). The role of the mutation E318G (a substitution of glutamic acid to glycine) in the PSEN-1 is controversial. It has been found both in AD patients and in non-demented control individuals. Using the polymerase chain reaction and the restriction fragment length polymorphism method, we screened for E318G...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.