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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha: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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