Article
A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)
1 Apr 2000
Abstract excerpt
Exonic and intronic mutations in the tau gene cause familial frontotemporal dementia and parkinsonism linked to chromosome 17. Here, we describe a new mutation, consisting of a C-to-T transition at position +12 of the intron following exon 10 of the tau gene in the Kumamoto pedigree, showing frontotemporal dementia. The mutation caused a marked reduction in melting temperature of the tau exon 10-splicing...
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