Article
High capacity and low cost detection of prion protein gene variant alleles by denaturing HPLC.
Journal of neuroscience methods - 30 Oct 2004
Castro Rosa Maria R P S, Landemberger Michele C, Walz Roger, Carlotti Carlos G, Huang Nancy, Cunha Danielle R, Moura Ricardo, Caballero Otávia L, Sakamoto Américo C, Nitrini Ricardo, Brentani Ricardo R, Martins Vilma R
Abstract excerpt
Mutations in the human prion protein gene (PRNP) are responsible for hereditary diseases called transmissible spongiform encephalopathies (TSE) and a polymorphic site at codon 129 determines sensitivity to infectious forms of these maladies. More recently, codon 129 has been related to cognition performance in the elderly, in Alzheimer disease (AD) and in Down syndrome. Furthermore, a rare polymorphism at codon...
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