Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex

Sandra M. Pasternack, Melanie Refke, Elham Paknia, Hans Christian Hennies, Thomas Franz, Niklas Schäfer, Alan Fryer, Maurice Van Steensel, Elizabeth Sweeney, Miquel Just, Clemens Grimm, Roland Kruse, Carlos Ferrándiz, Markus M. Nöthen, Utz Fischer, Regina C. Betz

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Keyphrases

Biochemistry, Genetics and Molecular Biology