Ontology highlight
ABSTRACT:
SUBMITTER: Guven G
PROVIDER: S-EPMC6422018 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Guven Gamze G Bilgic Başar B Tufekcioglu Zeynep Z Erginel Unaltuna Nihan N Hanagasi Hasmet H Gurvit Hakan H Singleton Andrew A Hardy John J Emre Murat M Gulec Cagri C Bras Jose J Guerreiro Rita R Lohmann Ebba E
Journal of Alzheimer's disease : JAD 20190101 1
Progranulin (GRN) gene mutations are a major cause of frontotemporal dementia (FTD). Most mutations identified to date are null mutations, which are predicted to cause the pathology via haploinsufficiency. Decreased peripheral progranulin protein (PGRN) levels are associated with the presence of GRN null mutations and are accepted as reliable biomarkers. In this study, our aim was to test whether the presence of specific GRN splice site mutations (c.- 8+2T>G and c.708+6_9del), could be predicted ...[more]