+39ΔG variant, Exon 4, Progressive supranuclear palsy, R406W mutation, Sequencing, Splicing effect, Tau gene
dx.doi.org/10.1016/S0304-3940(99)00669-2, hdl.handle.net/1765/67834
Neuroscience Letters
Department of Clinical Genetics

Bonifati, V, Joosse, M, Nicholl, D.J, Vanacore, N, Bennett, P, Rizzu, P, … Heutink, P. (1999). The tau gene in progressive supranuclear palsy: Exclusion of mutations in coding exons and exon 10 splice sites, and identification of a new intronic variant of the disease-associated H1 haplotype in Italian cases. Neuroscience Letters, 274(1), 61–65. doi:10.1016/S0304-3940(99)00669-2