The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

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http://www.wikidata.org/entity/Q53225518
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriersA thorough assessment of benign genetic variability in GRN and MAPT.Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APPEarly-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrumAssociation between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genesPresenilin 1 interacts with acetylcholinesterase and alters its enzymatic activity and glycosylation.Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex.Structure nor stability of the transmembrane spanning 6/7 domain of presenilin I correlates with pathogenicity.Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation.Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.A unifying hypothesis of Alzheimer's disease. III. Risk factors.
P2860

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

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http://www.wikidata.org/entity/Q53225518
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1998 nî lūn-bûn
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1998年の論文
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年学术文章
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1998年學術文章
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name
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@en
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@nl
type
label
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@en
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@nl
prefLabel
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@en
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
The Glu318Gly mutation of the ...... ily cause Alzheimer's disease.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698