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Article

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17.

Journal of applied genetics - 1 Jan 2002

Kowalska Anna, Hasegawa Masato, Miyamoto Katsuichi, Akiguchi Ichiro, Ikemoto Akito, Takahashi Keikichi, Araki Wataru, Tabira Takeshi

Abstract excerpt

Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a...

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PMID: 12441638

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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