PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
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Publisher
Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
An in depth study of PSEN1 mutation p.Thr116Ile (c.335C>T) is presented from two Korean families with autosomal dominant inheritance. Clinical manifestation of our patients included memory loss, attention deficits, visuospatial dysfunction, agnosia, aphasia, apraxia, and personality changes, which occurred in their 30s. PSEN1 Thr116Ile was initiall...
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Full title
PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer’s Disease
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6164060
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6164060
Other Identifiers
ISSN
1422-0067,1661-6596
E-ISSN
1422-0067
DOI
10.3390/ijms19092604
