Zhang G, Xie Y, Wang W, Feng X, Jia J

Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.

J Neurol Sci 372:379-386 (2017)
DOI:10.1016/j.jns.2016.10.039

Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A

Novel mutations and repeated findings of mutations in familial Alzheimer disease.

Neurogenetics 6:85-9 (2005)
DOI:10.1007/s10048-005-0211-x

Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al.

Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene.

Nature 353:844-6 (1991)
DOI:10.1038/353844a0

Walsh DM, Hartley DM, Condron MM, Selkoe DJ, Teplow DB

In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease.

Biochem J 355:869-77 (2001)
DOI:10.1042/bj3550869