Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
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Authors
MacArthur, Daniel
Seto, Jane T
Raftery, Joanna M
Quinlan, Kate G
Huttley, Gavin Austin
Hook, Jeff W
Lemckert, Frances A
Kee, Anthony J
Edwards, Michael R
Berman, Yemima
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Nature Publishing Group
Abstract
More than a billion humans worldwide are predicted to be completely deficient in the fast skeletal muscle fiber protein α-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene. The R577X polymorphism is associa
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Nature Genetics
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2037-12-31