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Article

PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.

Clinical interventions in aging - 1 Jan 2016

Bagyinszky Eva, Park Sun Ah, Kim Hyung Jun, Choi Seong Hye, An Seong Soo A, Kim Sang Yun

Abstract excerpt

In this study, we report a first 226leucine (Leu) mutation to phenylalanine (Phe) in (PSEN1, CTC>TTC, L226F) in Asia from a Korean early-onset Alzheimer's disease (EOAD) patient. Polymerase chain reaction (PCR)-single strand conformation polymorphism, sequencing, and in silico predictions were performed. Previously, L226F was reported in EOAD patients by Zekanowski et al and Gómez-Tortosa et al. Disease...

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Source

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Identifiers

PMID: 27785004
DOI: 10.2147/CIA.S111821
PMCID: PMC5066688

Genes

PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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