Dement Neurocogn Disord.  2020 Mar;19(1):33-35. 10.12779/dnd.2020.19.1.33.

The R278I Mutation of PSEN1 in the Familial Alzheimer Disease

• Kim JH
• Choi SH
• Lee JH

• KMID: 2471935
• DOI: http://doi.org/10.12779/dnd.2020.19.1.33

Abstract

No abstract available.

MeSH Terms

Alzheimer Disease*

Figure

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  Fig 1 The pedigree of the family in the case. The arrow indicates proband, and the subjects with numbers were sequenced.

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  Fig. 2 Integrative genome browser (https://software.broadinstitute.org/software/igv/) view. The proband, sister and brother had chr14:73664802:G:T (p.Arg278Ile; hg19) mutation. The mother, who had normal cognition, did not have the mutation.

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