<i>PSEN1</i> His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine–Tryptophan Interactions in TM-4 Stability

A pathogenic mutation in presenilin-1 (<i>PSEN1</i>), His214Asn, was found in a male patient with memory decline at the age of 41 in Korea for the first time. The proband patient was associated with a positive family history from his father, paternal aunt, and paternal grandmother withou...

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Bibliographic Details
Main Authors: Eva Bagyinszky, Minju Kim, Young Ho Park, Seong Soo A. An, SangYun Kim
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/25/1/116