Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy

Accumulating evidence suggests that genetic variants in the SORL1 gene are associated with Alzheimer disease (AD), but a strategy to identify which variants are pathogenic is lacking. In a discovery sample of 115 SORL1 variants detected in 1908 Dutch AD cases and controls, we identified the variant...

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Publicado no:Eur J Hum Genet
Main Authors: Holstege, Henne, van der Lee, Sven J, Hulsman, Marc, Wong, Tsz Hang, van Rooij, Jeroen GJ, Weiss, Marjan, Louwersheimer, Eva, Wolters, Frank J, Amin, Najaf, Uitterlinden, André G, Hofman, Albert, Ikram, M Arfan, van Swieten, John C, Meijers-Heijboer, Hanne, van der Flier, Wiesje M, Reinders, Marcel JT, van Duijn, Cornelia M, Scheltens, Philip
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567154/
https://ncbi.nlm.nih.gov/pubmed/28537274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.87
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