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A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

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Figure 1: Identification of the C1147T mutation.
Figure 2: Kinase activity of mutant R383W RPS6KA3 is decreased.

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Acknowledgements

We thank A. Staub, I. Colas, F. Ruffenach, E. Troesch, S. Vicaire and M. Acker for technical assistance. This work was supported by funds from the Commission of the European Communities, the Association Française contre les Myopathies (AFM), the Association Française pour la Recherche contre le Cancer (ARC), the CNRS, the INSERM and the Hôpital Universitaire de Strasbourg. K.M. is a recipient of a fellowship from the Association Française contre les Myopathies.

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Correspondence to André Hanauer.

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Merienne, K., Jacquot, S., Pannetier, S. et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat Genet 22, 13–14 (1999). https://doi.org/10.1038/8719

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