Peripheral GRN mRNA and Serum Progranulin Levels as a Potential Indicator for Both the Presence of Splice Site Mutations and Individuals at Risk for Frontotemporal Dementia

Progranulin (GRN) gene mutations are a major cause of frontotemporal dementia (FTD). Mostmutations 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...

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Bibliografske podrobnosti
izdano v:J Alzheimers Dis
Main Authors: Guven, Gamze, Bilgic, Başar, Tufekcioglu, Zeynep, Erginel Unaltuna, Nihan, Hanagasi, Hasmet, Gurvit, Hakan, Singleton, Andrew, Hardy, John, Emre, Murat, Gulec, Cagri, Bras, Jose, Guerreiro, Rita, Lohmann, Ebba
Format: Artigo
Jezik:Inglês
Izdano: 2019
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6422018/
https://ncbi.nlm.nih.gov/pubmed/30475763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JAD-180599
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