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A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N–terminus of β–amyloid

✍ Scribed by Mullan, Mike; Crawford, Fiona; Axelman, Karin; Houlden, Henry; Lilius, Lena; Winblad, Bengt; Lannfelt, Lars


Book ID
109916629
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
348 KB
Volume
1
Category
Article
ISSN
1061-4036

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A novel mutation, a C to T transition at base pair 2124 in exon 17 of the amyloid beta-protein precursor (APP) gene, has been identified by direct sequencing of amplified DNA from two Alzheimer's disease (AD) patients. A simple oligonucleotide-hybridization procedure was developed to allow populatio