Article
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.
Neurogenetics - 1 Oct 2009
Colombo Roberto, Tavian Daniela, Baker Matthew C, Richardson Anna M T, Snowden Julie S, Neary David, Mann David M A, Pickering-Brown Stuart M
Abstract excerpt
IVS10+16C>T is the most prevalent mutation in the microtubule-associated protein tau gene (MAPT) causing frontotemporal lobar degeneration (FTLD) in populations of British descent. A highly conserved 17q21 haplotype was identified in IVS10+16C>T chromosomes from North Wales, Greater Manchester and the London areas of the UK, Australia, and the USA, suggesting the occurrence of a common founder effect. To test...
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