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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

Frontotemporal dementia with parkinsonism, chromosome 17 type (FTDP-17) is caused by mutations in the tau gene, and the signature lesions of FTDP-17 are filamentous tau inclusions. Tau mutations may be pathogenic either by altering protein function or gene regulation. Here we show that missense, sil...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: D’Souza, Ian, Poorkaj, Parvoneh, Hong, Ming, Nochlin, David, Lee, Virginia M.-Y., Bird, Thomas D., Schellenberg, Gerard D.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The National Academy of Sciences 1999
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC21906/
https://ncbi.nlm.nih.gov/pubmed/10318930
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