Article
A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.
International journal of molecular sciences - 9 Mar 2022
Shim Kyu-Hwan, Kang Min-Ju, Bae Heewon, Kim Danyeong, Park Jiwon, An Seong-Soo A, Jeong Da-Eun
Abstract excerpt
Early-onset Alzheimer’s disease (EOAD) is characterized by the presence of neurological symptoms in patients with Alzheimer’s disease (AD) before 65 years of age. Mutations in pathological genes, including amyloid protein precursor (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), were associated with EOAD. Seventy-six mutations in PSEN2 have been found around the world, which could affect the activity of...
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