Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

    December 2012 in “ The American Journal of Human Genetics ”
    Sandra M. Pasternack, Melanie Refke, Elham Paknia, Hans Christian Hennies, Thomas Franz, Niklas Schäfer, Alan Fryer, Maurice A. M. Van Steensel, Elizabeth Sweeney, Miquel Just, Clemens Grimm, Roland Kruse, Carlos Ferrándiz, Markus M. Nöthen, Utz Fischer, Regina C. Betz

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