Article
Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.
Clinical genetics - 1 Jun 1998
Morelli L, Prat M I, Levy E, Mangone C A, Castaño E M
Abstract excerpt
Most of the cases of early-onset familial Alzheimer's disease (FAD) are related to missense mutations in the presenilin 1 (PS-1) gene on chromosome 14. Although PS-1 mutations are distributed throughout the entire open reading frame, most mutations are found in transmembrane region II and hydrophilic loop VI encoded by exons 5 and 8, respectively. These two groups of substitutions are associated with an age of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.