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Dokumenttyp:
journal article 
Autor(en):
Benussi, L; Binetti, G; Sina, E; Gigola, L; Bettecken, T; Meitinger, T; Ghidoni, R 
Titel:
A novel deletion in progranulin gene is associated with FTDP-17 and CBS. 
Abstract:
In the last decade familial frontotemporal dementia (FFTD) has emerged as a distinct clinical disease entity characterized by clinical and genetic heterogeneity. Here, we provide an extensive clinical and genetic characterization of two Italian pedigrees presenting with FFTD (FAM047: 5 patients, 5 unaffected; FAM071: 4 patients, 11 unaffected). Genetic analysis showed a conclusive linkage (LOD score for D17S791/D17S951: 4.173) to chromosome 17 and defined a candidate region containing MAPT and...    »
 
Zeitschriftentitel:
Neurobiol Aging 
Jahr:
2008 
Band / Volume:
29 
Heft / Issue:
Seitenangaben Beitrag:
427-35 
Sprache:
eng 
Print-ISSN:
0197-4580 
TUM Einrichtung:
r Humangenetik