Article
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
JAMA neurology - 1 Jan 2013
Guerreiro Rita João, Lohmann Ebba, Brás José Miguel, Gibbs Jesse Raphael, Rohrer Jonathan D, Gurunlian Nicole, Dursun Burcu, Bilgic Basar, Hanagasi Hasmet, Gurvit Hakan, Emre Murat, Singleton Andrew, Hardy John
Abstract excerpt
OBJECTIVE: To identify new genes and risk factors associated with frontotemporal dementia (FTD). Several genes and loci have been associated with different forms of FTD, but a large number of families with dementia do not harbor mutations in these genes. DESIGN: Whole-exome sequencing and whole-genome genotyping were performed in all patients. Genetic variants obtained from whole-exome sequencing were integrated...
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