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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha: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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