HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
HDDD2 是一种家族性额颞叶变性，其特征是泛素阳性、tau 蛋白阴性的包涵体，由前粒蛋白信号肽中的错义突变引起
期刊:Annals of Neurology
影响因子:7.7
doi:10.1002/ana.20963
Mukherjee Odity, Pastor Pau, Cairns Nigel J, Chakraverty Sumi, Kauwe John S K, Shears Shantia, Behrens Maria I, Budde John, Hinrichs Anthony L, Norton Joanne, Levitch Denise, Taylor-Reinwald Lisa, Gitcho Michael, Tu P-H, Tenenholz Grinberg Lea, Liscic Rajka M, Armendariz Javier, Morris John C, Goate Alison M
