Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease

A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of 41 years. Family history was positive, since several family members were also diagno...

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Bibliographic Details
Main Authors: Vorapun Senanarong, Seong Soo A. An, Vo Van Giau, Chanin Limwongse, Eva Bagyinszky, SangYun Kim
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Diagnostics
Subjects:
psen1
alzheimer’s disease
mutation
presenilin1
next generation sequencing
splice site mutation
Online Access:https://www.mdpi.com/2075-4418/10/3/135

Internet

https://www.mdpi.com/2075-4418/10/3/135

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