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Mutations in TYROBP are not a common cause of dementia in a Turkish cohort

Darwent, L; Carmona, S; Lohmann, E; Guven, G; Kun-Rodrigues, C; Bilgic, B; Hanagasi, H; ... Guerreiro, R; + view all (2017) Mutations in TYROBP are not a common cause of dementia in a Turkish cohort. Neurobiology of Aging , 58 240.e1-240.e3. 10.1016/j.neurobiolaging.2017.06.019. Green open access

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Abstract

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.

Type: Article
Title: Mutations in TYROBP are not a common cause of dementia in a Turkish cohort
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2017.06.019
Publisher version: http://dx.doi.org/10.1016/j.neurobiolaging.2017.06...
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Dementia, Genetic variant, TYROBP, Turkish cohort, Whole-exome sequencing, Whole-genome genotyping
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Institute of Prion Diseases > MRC Prion Unit at UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/1567614
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