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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Bibliographic Details
Main Authors: 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
Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
Format: Journal Article
Language:English
Published: 2019
Subjects:
Science::Medicine
TREM2
Frontotemporal Dementia
Online Access:https://hdl.handle.net/10356/104418
http://hdl.handle.net/10220/50008

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