A novel compound heterozygous mutation in TREM2 found in a Turkish frontotemporal dementia-like family()

Triggering receptor expressed on myeloid cells 2 (TREM2) homozygous mutations cause Nasu-Hakola disease, an early-onset recessive form of dementia preceded by bone cysts and fractures. The same type of mutations has recently been shown to cause frontotemporal dementia (FTD) without the presence of a...

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Hlavní autoři: Guerreiro, Rita, Bilgic, Basar, Guven, Gamze, Brás, José, Rohrer, Jonathan, Lohmann, Ebba, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2013
Témata:
Genetic Reports Abstract
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3898264/
https://ncbi.nlm.nih.gov/pubmed/23870839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2013.06.005
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