Article
MAPT gene duplications are not a cause of frontotemporal lobar degeneration.
Neuroscience letters - 31 Aug 2007
Lladó A, Rodríguez-Santiago B, Antonell A, Sánchez-Valle R, Molinuevo J L, Reñé R, Pérez-Jurado L A
Abstract excerpt
Recurrent deletions of the 17q21.31 region encompassing the microtubule-associated protein tau (MAPT) gene have recently been described in patients with mental retardation. This region is flanked by segmental duplications that make it prone to inversions, deletions and duplications. Since gain-of-function mutations of the MAPT gene cause frontotemporal lobar degeneration (FTLD) characterized by deposition of tau...
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