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Document type:
journal article 
Author(s):
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; AESG; Sassi, Celeste; Gibbs, J Raphael; Hernandez, Dena; Brookes, Keeley J; Guetta-Baranes, Tamar; Francis, Paul T; Lupton, Michelle K; Br...    »
 
Title:
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease. 
Abstract:
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 whole-genome sequencing we now identified a single rare nonsynonymous variant (SNV) rs142946965 [p.R215I] in ADAM17 co-segregating with an autosomal-dominan...    »
 
Journal title abbreviation:
Mol Psychiatry 
Year:
2018 
Language:
eng 
Print-ISSN:
1359-4184 
TUM Institution:
Klinik und Poliklinik für Psychiatrie und Psychotherapie