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An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5954066

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

About this item

Full title

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Acta neuropathologica, 2018-06, Vol.135 (6), p.827-837

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (
ABCA7
) are high penetrant risk factors of Alzheimer’s disease (AD). The influence of other genetic variants in
ABCA7
and downstream functional mechanisms, however, is poorly understood. To address this knowledge gap, we investigated tandem...

Alternative Titles

Full title

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5954066

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5954066

Other Identifiers

ISSN

0001-6322

E-ISSN

1432-0533

DOI

10.1007/s00401-018-1841-z

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