Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene
Autor: | Bergman, Jorieke E.H., Veenstra-Knol, Hermine E., van Essen, Anthonie J., van Ravenswaaij, Conny M.A., den Dunnen, Wilfred F.A., van den Wijngaard, Arthur, Peter van Tintelen, J. |
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Zdroj: | In European Journal of Medical Genetics 2007 50(5):355-366 |
Databáze: | ScienceDirect |
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