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EIF2AK3 variants in Dutch patients with Alzheimer's disease

Abstract:

Next-generation sequencing has contributed to our understanding of the genetics of Alzheimer's disease (AD) and has explained a substantial part of the missing heritability of familial AD. We sequenced 19 exomes from 8 Dutch families with a high AD burden and identified EIF2AK3, encoding for protein kinase RNA-like endoplasmic reticulum kinase (PERK), as a candidate gene. Gene-based burden analysis in a Dutch AD exome cohort containing 547 cases and 1070 controls showed a significant associat...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.neurobiolaging.2018.08.016

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Publisher:
Elsevier Publisher's website
Journal:
Neurobiology of Aging Journal website
Volume:
73
Pages:
229.e11-229.e18
Publication date:
2018-08-24
Acceptance date:
2018-08-15
DOI:
EISSN:
1558-1497
ISSN:
0197-4580
Pmid:
30314817
Source identifiers:
929699
Language:
English
Keywords:
Pubs id:
pubs:929699
UUID:
uuid:1ed21646-ced0-4012-954d-ea58ccf11be9
Local pid:
pubs:929699
Deposit date:
2018-11-21

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