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pro vyhledávání: '"Harrison D. Wood"'
Autor:
Victoria L. Wyckelsma, Tomas Venckunas, Peter J. Houweling, Maja Schlittler, Volker M. Lauschke, Chrystal F. Tiong, Harrison D. Wood, Henrikas Paulauskas, Nerijus Eimantas, Daniel C. Andersson, Kathryn N. North, Marius Brazaitis, Håkan Westerblad
Publikováno v:
Am J Hum Genet
The common loss-of-function mutation R577X in the structural muscle protein ACTN3 emerged as a potential target of positive selection from early studies and has been the focus of insightful physiological work suggesting a significant impact on muscle
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78452f621cf91767e96d94c7683e5a00
https://europepmc.org/articles/PMC9118094/
https://europepmc.org/articles/PMC9118094/
Autor:
Lucinda Bek, Kelly N. Roeszler, Siaw F. Lee, Peter J. Houweling, Harrison D. Wood, Paul Gregorevic, Jane T. Seto, Lyra R. Meehan, Chrystal F. Tiong, Kathryn N. North, Manan Shah, Kate G. R. Quinlan
Publikováno v:
Science Advances. 7
Homozygosity for the common ACTN3 null polymorphism (ACTN3 577X) results in α-actinin-3 deficiency in ~20% of humans worldwide and is linked to reduced sprint and power performance in both elite athletes and the general population. α-Actinin-3 defi