Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement

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...

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Dades bibliogràfiques
Autors principals: Ng, Adeline S. L., Tan, Yi Jayne, Yi, Zhao, Tandiono, Moses, Chew, Elaine, Dominguez, Jacqueline, Macas, Mabel, Ng, Ebonne, Hameed, Shahul, Ting, Simon, Tan, Eng King, Foo, Jia Nee, Kandiah, Nagaendran
Altres autors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Journal Article
Idioma:English
Publicat: 2019
Matèries:
Science::Medicine
TREM2
Frontotemporal Dementia
Accés en línia:https://hdl.handle.net/10356/104418
http://hdl.handle.net/10220/50008

Internet

https://hdl.handle.net/10356/104418
http://hdl.handle.net/10220/50008

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