Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

Alzheimer's disease (AD) is a genetically complex disorder for which the definite diagnosis is only accomplished post mortem. Mutations in three genes (APP, PSEN1 and PSEN2) are known to cause AD, but a large number of familial cases do not harbor mutations in these genes and several unidentifi...

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Hauptverfasser: Guerreiro, Rita Joao, Lohmann, Ebba, Kinsella, Emma, Bras, Jose Miguel, Luu, Nga, Gurulian, Nicole, Dursun, Burcu, Bilgi, Basar, Santana, Isabel, Hanagasi, Hasmet, Gurvit, Hakan, Gibbs, Raphael, Oliveira, Catarina, Emre, Murat, Singleton, Andrew
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306507/
https://ncbi.nlm.nih.gov/pubmed/22153900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2011.10.009
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