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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Detaylı Bibliyografya
Yayımlandı:Neurobiol Aging
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim: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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