Exome sequencing in a consanguineous family clinically diagnosed with early onset Alzheimer’s disease identifies an homozygous CTSF mutation

We have previously reported the whole genome genotyping analysis of two consanguineous siblings clinically diagnosed with early onset Alzheimer’s disease. In this analysis we identified several large regions of homozygosity shared between both affected siblings, which we suggested could be candidate...

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Detalhes bibliográficos
Publicado no:Neurobiol Aging
Main Authors: Bras, Jose, Djaldetti, Ruth, Alves, Ana Margarida, Mead, Simon, Darwent, Lee, Lleo, Alberto, Molinuevo, Jose Luis, Blesa, Rafael, Singleton, Andrew, Hardy, John, Clarimon, Jordi, Guerreiro, Rita
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5166571/
https://ncbi.nlm.nih.gov/pubmed/27524508
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2016.06.018
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