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Article

Estimating the age of the most common Italian GRN mutation: walking back to Canossa times.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Benussi Luisa, Rademakers Rosa, Rutherford Nicola J, Wojtas Aleksandra, Glionna Michela, Paterlini Anna, Albertini Valentina, Bettecken Thomas, Binetti Giuliano, Ghidoni Roberta

Abstract excerpt

Mutations in the progranulin gene (GRN) were first implicated in frontotemporal lobar degeneration in 2006. The GRN p.Leu271LeufsX10 mutation is one of the most common GRN mutations worldwide. To gain further insight into the origin of this mutation in Italy, we performed a haplotype sharing analysis (32 families, residents of Lombardy) and refined the GRN p.Leu271LeufsX10 mutation dating. We showed that almost...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22890101
DOI: 10.3233/JAD-2012-121306

Genes

GRN

Variants

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