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A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease

✍ Scribed by Charlotte Forsell; Susanne Froelich; Karin Axelman; Monika Vestling; Richard F Cowburn; Lena Lilius; Janet A Johnston; Benita Engvall; Kurt Johansson; Åsa Dahlkild; Martin Ingelson; Peter H St. George-Hyslop; Lars Lannfelt

Book ID: 117475694
Publisher: Elsevier Science
Year: 1997
Tongue: English
Weight: 95 KB
Volume: 234
Category: Article
ISSN: 0304-3940
DOI: 10.1016/s0304-3940(97)00603-4

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Familial Alzheimer's disease (AD) is an autosomal dominant disorder characterized by memory impairment and multiple cognitive deficits which occurs in mid to late life. Early onset AD has been associated with mutations in three genes, of which presenilin 1 (PS1) mutations are the most frequent. We s