Two Novel Mutations in the First Transmembrane Domain of Presenilin1 Cause Young-Onset Alzheimer's Disease.

Liu CY, Ohki Y, Tomita T, Osawa S, Reed BR, Jagust W, Van Berlo V, Jin L-W, Chui HC, Coppola G, et al.

J Alzheimers Dis. 2017; 58(4):1035-1041. PMID: 28550247. Abstract