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 Schaefer, Alan Fryer, Maurice van Steensel, Elizabeth Sweeney, Miquel Just, Clemens Grimm, Roland Kruse, Carlos Ferrandiz, Markus M. Noethen, Utz Fischer, Regina C. Betz

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)81-87
JournalAmerican Journal of Human Genetics
Volume92
Issue number1
DOIs
Publication statusPublished - 10 Jan 2013

Cite this

Pasternack, S. M., Refke, M., Paknia, E., Hennies, H. C., Franz, T., Schaefer, N., Fryer, A., van Steensel, M., Sweeney, E., Just, M., Grimm, C., Kruse, R., Ferrandiz, C., Noethen, M. M., Fischer, U., & Betz, R. C. (2013). Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex. American Journal of Human Genetics, 92(1), 81-87. https://doi.org/10.1016/j.ajhg.2012.10.022