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Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

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; Hardeman, Edna C; Gunning, Peter W; Easteal, Simon; Yang, Nan; North, Kathryn

Description

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

CollectionsANU Research Publications
Date published: 2007
Type: Journal article
URI: http://hdl.handle.net/1885/29134
Source: Nature Genetics
DOI: 10.1038/ng2122

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