A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

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 wit...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042727/
https://www.ncbi.nlm.nih.gov/pubmed/29988083
http://dx.doi.org/10.1038/s41380-018-0091-8

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