Mutations in TYROBP are not a common cause of dementia in a Turkish cohort
Yazar
Lohmann, Ebba
Guerreiro, Rita
Pak, Meltem
Singleton, Andrew
Gurvit, Hakan
Hanagasi, Haşmet Ayhan
Bilgic, Başar
ERGINEL-UNALTUNA, Nihan
Bras, Jose
Hardy, John
GUVEN, Gamze
Kun-Rodrigues, Celia
Carmona, Susana
Darwent, Lee
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© 2017 Elsevier Inc.Mutations in TYROBP and TREM2 have been shown to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Recently, variants in TREM2 were also associated with frontotemporal dementia and Alzheimer's disease. Given the functional proximity between these 2 genes, we investigated the genetic variation of TYROBP in a Turkish cohort of 103 dementia patients. No mutations or copy number variants predicted to be pathogenic were identified. These results indicate that mutations in TYROBP are not a common cause of dementia in this Turkish cohort.
Bağlantı
http://hdl.handle.net/20.500.12627/76574https://doi.org/10.1016/j.neurobiolaging.2017.06.019
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85023764903&origin=inward
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