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Altered Ca(2+) Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution

Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein α-actinin-3 due to homozygosity for a common null polymorphism (R577X) in the ACTN3 gene. α-Actinin-3 deficiency is detrimental to sprint performance in elite athletes and beneficial to endurance activities. In the human geno...

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Detalles Bibliográficos
Autores principales: Head, Stewart I., Chan, Stephen, Houweling, Peter J., Quinlan, Kate G. R., Murphy, Robyn, Wagner, Sören, Friedrich, Oliver, North, Kathryn N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4295894/
https://www.ncbi.nlm.nih.gov/pubmed/25590636
http://dx.doi.org/10.1371/journal.pgen.1004862