Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement
To identify genes associated with frontotemporal dementia (FTD) in South-East Asia, targeted exome sequencing and C9orf72 genotyping was performed in 198 subjects (52 patients with FTD and 146 healthy controls) who were screened for mutations in 12 FTD-associated genes. We detected a homozygous TREM...
Autors principals: | , , , , , , , , , , , , |
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Altres autors: | |
Format: | Journal Article |
Idioma: | English |
Publicat: |
2019
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Matèries: | |
Accés en línia: | https://hdl.handle.net/10356/104418 http://hdl.handle.net/10220/50008 |