Article
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.
European journal of human genetics : EJHG - 1 Jan 2012
Laffita-Mesa José Miguel, Velázquez-Pérez Luis C, Santos Falcón Nieves, Cruz-Mariño Tania, González Zaldívar Yanetza, Vázquez Mojena Yaimee, Almaguer-Gotay Dennis, Almaguer Mederos Luis Enrique, Rodríguez Labrada Roberto
Abstract excerpt
The role of short, large or intermediate normal alleles (ANs) of the ataxin-2 gene in generating expanded alleles (EAs) causing spinocerebellar ataxia type 2 (SCA2) is poorly understood. It has been postulated that SCA2 prevalence is related to the frequency of large ANs. SCA2 shows the highest worldwide prevalence in Cuban population, which is therefore a unique source for studying the relationship between the...
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