Article
Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.
Journal of molecular neuroscience : MN - 1 Jun 2013
de Mena Lorena, Samaranch L Luís, Coto Eliecer, Cardo Lucía F, Ribacoba René, Lorenzo-Betancor Oswaldo, Pastor Pau, Wang Li, Irigoyen Jaione, Mata Ignacio F, Díaz Marta, Moris Germán, Menéndez Manuel, Corao Ana I, Lorenzo Elena, Alvarez Victoria
Abstract excerpt
PRKN mutations have been linked to Parkinson's disease (PD). Most of the mutational screenings have focused on the coding exons. The 3' untranslated region (UTR) could also harbor functionally relevant nucleotide changes. We performed a mutational screening of PRKN in a cohort of early-onset PD patients (n = 235) from Spain. We found 16 mutations (five new): 16 patients (7 %) carried two mutations and only one...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
