Article
Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.
Human mutation - 1 Jul 2009
Nuytemans Karen, Meeus Bram, Crosiers David, Brouwers Nathalie, Goossens Dirk, Engelborghs Sebastiaan, Pals Philippe, Pickut Barbara, Van den Broeck Marleen, Corsmit Ellen, Cras Patrick, De Deyn Peter P, Del-Favero Jurgen, Van Broeckhoven Christine, Theuns Jessie
Abstract excerpt
The relative contribution of simple mutations and copy number variations (CNVs) in SNCA, PARK2, PINK1, PARK7, and LRRK2 to the genetic etiology of Parkinson disease (PD) is still unclear because most studies did not completely analyze each gene. In a large group of Belgian PD patients (N = 310) and control individuals (N = 270), we determined the mutation frequency of both simple mutations and CNVs in these five...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.