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Familial Alzheimer's chromosome 14 mutations

โœ Scribed by Wasco, W.; Pettingell, W.P.; Jondro, P.D.; Schmidt, S.D.; Gurubhagavatula, S.; Rodes, L.; Diblasi, T.; Romano, D.M.; Guenette, S.Y.; Kovacs, D.M.

Book ID
109930162
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
127 KB
Volume
1
Category
Article
ISSN
1078-8956

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Mutations in the presenilin genes (PS-1 and PS-2) cause early onset autosomal dominant Alzheimer's disease (AD). Eight early-onset, autopsy-documented familial AD kindreds were screened for mutations in PS-1, and seven different mutations were identified. Three of these were new mutations (G209V, A4

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Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14
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Early onset familial Alzheimer's disease (AD) has an autosomal dominant mode of inheritance. T w o genes are responsible for the majority of cases of this subtype of AD. Mutations in the P-amyloid precursor protein (PAPP) gene on chromosome 21 have been shown to completely cosegregate with the disea