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A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

We report here the genetic analysis of a newly ascertained kindred in which frontotemporal dementia occurs in an apparent autosomal dominant fashion, and in which a novel MAPT gene mutation co-segregates with disease. Sequencing the MAPT gene in affected individuals revealed a change in intron 9. Th...

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Detaylı Bibliyografya
Asıl Yazarlar: Roneil Malkani, Ian D'Souza, Katrina Gwinn-Hardy, Gerard D. Schellenberg, John Hardy, Parastoo Momeni
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2006-05-01
Seri Bilgileri:Neurobiology of Disease
Konular:
Online Erişim:http://www.sciencedirect.com/science/article/pii/S0969996105003360
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