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[Neurodegenerative disease associated with a mutation of codon 279 (N279K) in exon 10 of Tau protein].

Bulletin de l'Academie nationale de medecine - 1 Jan 2000

Delisle M B, Uro-Coste E, Murrell J R, Rascol O, Ghetti B

Abstract excerpt

Frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17) are related to pathogenic mutations of the Tau gene. One of these, located at codon 279, results in an asparagine to lysine substitution. It was detected in three unrelated families from different origins. This mutation affects splicing, allowing exon 10 to be incorporated more frequently in the Tau transcripts, causing an abnormal...

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PMID: 10989564

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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