Simple Method to Genotype the ACTN3 r577x Polymorphism.

doi:10.1089/gtmb.2014.0299

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Article

Simple Method to Genotype the ACTN3 r577x Polymorphism.

Genetic testing and molecular biomarkers - 1 May 2015

Schadock Ines, Schneider Augusto, Silva Elton Dias, Buchweitz Marcia Rubia Duarte, Correa Marcio Nunes, Pesquero Joao Bosco, Paredes-Gamero Edgar Julian, Araujo Ronaldo Carvalho, Barros Carlos Castilho

Abstract excerpt

The alpha-actinin-3 r577x polymorphism (rs1815739) is one of the most important polymorphisms associated with athletic performance. This single-nucleotide mutation leads to a premature stop codon, resulting in a nonfunctional protein product. The presence of the dominant R allele is associated with full power skeletal muscle contraction. Homozygosity for the X allele is correlated with more efficient energy...

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PMID: 25831089
DOI: 10.1089/gtmb.2014.0299

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ACTN3

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