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A common nonsense mutation results in α-actinin-3 deficiency in the general population

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Figure 1: Molecular analysis of α-actinin-3 genes and proteins.

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Acknowledgements

We thank S. Kim and H.-Q. Tong for technical assistance, M. Ettore for help with ACTN3 genotyping and P. Gunning, L. Kunkel and J. Scharf for their suggestions and critical reading of the manuscript. The authors acknowledge a gift of anonymous DNA samples from D. Bing and R. Houranieh at the Boston Center for Blood Research. This work was supported by an RACP Glaxo Wellcome Australia Fellowship to K.N.N. and by grants from the Muscular Dystrophy Association and the National Institutes of Health (NIAMS R01 AR44345 and K02 AR02026) to A.H.B.

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Authors and Affiliations

  1. Neurogenetics Research Unit, Royal Alexandra Hospital for Children, Sydney, N.S.W., Australia

    Kathryn N. North, Nan Yang & Michelle Mills

  2. Department of Paediatrics and Child Health, University of Sydney, Sydney, N.S.W., Australia

    Kathryn N. North

  3. Genetics Division, Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA

    Duangrurdee Wattanasirichaigoon & Alan H. Beggs

  4. Human Genetics Group, John Curtin School of Medical Research, Australian National University, Canberra, A.C.T., Australia

    Simon Easteal

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  1. Kathryn N. North
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  2. Nan Yang
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  3. Duangrurdee Wattanasirichaigoon
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Correspondence to Kathryn N. North.

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North, K., Yang, N., Wattanasirichaigoon, D. et al. A common nonsense mutation results in α-actinin-3 deficiency in the general population. Nat Genet 21, 353–354 (1999). https://doi.org/10.1038/7675

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