Article
TREM2 variants in Alzheimer's disease.
The New England journal of medicine - 10 Jan 2013
Guerreiro Rita, Wojtas Aleksandra, Bras Jose, Carrasquillo Minerva, Rogaeva Ekaterina, Majounie Elisa, Cruchaga Carlos, Sassi Celeste, Kauwe John S K, Younkin Steven, Hazrati Lilinaz, Collinge John, Pocock Jennifer, Lashley Tammaryn, Williams Julie, Lambert Jean-Charles, Amouyel Philippe, Goate Alison, Rademakers Rosa, Morgan Kevin, Powell John, St George-Hyslop Peter, Singleton Andrew, Hardy John
Abstract excerpt
BACKGROUND: Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. METHODS: We used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1092 patients with Alzheimer's disease and 1107 controls (the discovery set). We...
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