Tau mutations altering splicing of tau exon 10 in japanese frontotemporal dementia View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2001

AUTHORS

Minoru Yasuda , Junichi Takamatsu , Osamu Komure , Sadako Kuno , Ian D’Souza , Toshio Kawamata , Masato Hasegawa , Takeshi Iwatubo , Parvoneh Poorkaj , Michel Goedert , Gerard D. Schellenberg , Chikako Tanaka

ABSTRACT

Recent studies have shown that mutations in the tau gene cause familial frontotempotal dementia and parkinsonism linked to chromosome 17 (FTDP-17) [1–5]. Known tau mutations are either intronic mutations located close to the splice-donor site of the intron following exon 10 or missense, deletion or silent mutations in the coding region. Here we describe two pathogenic mutations in the tau gene of Japanese patients with frontotemporal dementia and present the ensuing biochemical and morphological abnormalities. More... »

PAGES

81-84

Book

TITLE

Neuroscientific Basis of Dementia

ISBN

978-3-0348-9482-1
978-3-0348-8225-5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-0348-8225-5_9

DOI

http://dx.doi.org/10.1007/978-3-0348-8225-5_9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010316720


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