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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...

詳細記述

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書誌詳細
出版年:J Alzheimers Dis
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: 2019
主題:
オンライン・アクセス: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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