Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Hendriks L, van Duijn CM, Cras P, Cruts M, Van Hul W, van Harskamp F, Warren A, McInnis MG, Antonarakis SE, Martin JJ, Hofman A, Van Broeckhoven C. Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. Nature Genetics 1: 218-221, 1992 (PubMed ID: 1303239)

Mutations

APP: (Ala692Gly; Flemish APP)

ID: 38

Roks G, Van Harskamp F, De Koning I, Cruts M, De Jonghe C, Kumar-Singh S, Tibben A, Tanghe H, Niermeijer MF, Hofman A, Van Swieten JC, Van Broeckhoven C, Van Duijn CM. Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). Brain 123: 2130-2140, 2000 (PubMed ID: 11004129)

Mutations

APP: (Ala692Gly; Flemish APP)

ID: 117

Kumar-Singh S, Cras P, Wang R, Kros JM, van Swieten J, Lubke U, Ceuterick C, Serneels S, Vennekens K, Timmermans JP, Van Marck E, Martin JJ, van Duijn CM, Van Broeckhoven C. Dense-core senile plaques in the Flemish variant of Alzheimer's disease are vasocentric. American Journal of Pathology 161: 507-520, 2002 (PubMed ID: 12163376)

Mutations

APP: (Ala692Gly; Flemish APP)

ID: 174


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic


Selection:
Publication ID In (38,117,174)



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