作者
Rita Guerreiro,Aleksandra Wojtas,José Brás,Minerva M. Carrasquillo,Ekaterina Rogaeva,Elisa Majounie,Carlos Cruchaga,Celeste Sassi,John Kauwe,Steven G. Younkin,Lili‐Naz Hazrati,John Collinge,Jennifer M. Pocock,Tammaryn Lashley,Julie Williams,Jean‐Charles Lambert,Philippe Amouyel,Alison Goate,Rosa Rademakers,Kevin Morgan,John Powell,Peter St George‐Hyslop,Andrew Singleton,John Hardy
摘要
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.