A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
About this item
Full title
Author / Creator
Hartl, Daniela , May, Patrick , Gu, Wei , Mayhaus, Manuel , Pichler, Sabrina , Spaniol, Christian , Glaab, Enrico , Bobbili, Dheeraj Reddy , Antony, Paul , Koegelsberger, Sandra , Kurz, Alexander , Grimmer, Timo , Morgan, Kevin , Vardarajan, Badri N. , Reitz, Christiane , Hardy, John , Bras, Jose , Guerreiro, Rita , Balling, Rudi , Schneider, Jochen G. , Riemenschneider, Matthias and AESG
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important variants. One of the so far identified genes with rare AD causing variants is
ADAM10
. Using...
Alternative Titles
Full title
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
Authors, Artists and Contributors
Author / Creator
May, Patrick
Gu, Wei
Mayhaus, Manuel
Pichler, Sabrina
Spaniol, Christian
Glaab, Enrico
Bobbili, Dheeraj Reddy
Antony, Paul
Koegelsberger, Sandra
Kurz, Alexander
Grimmer, Timo
Morgan, Kevin
Vardarajan, Badri N.
Reitz, Christiane
Hardy, John
Bras, Jose
Guerreiro, Rita
Balling, Rudi
Schneider, Jochen G.
Riemenschneider, Matthias
AESG
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7042727
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7042727
Other Identifiers
ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/s41380-018-0091-8
