Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Christian Guelly, Peng-Peng Zhu, Lea Leonardis, Lea Papić, Janez Zidar, Maria Schabhüttl, Heimo Strohmaier, Joachim Weis, Tim M. Strom, Jonathan Baets, Jan Willems, Peter De Jonghe, Mary M. Reilly, Eleonore Fröhlich, Martina Hatz, Slave Trajanoski, Thomas R. Pieber, Andreas R. Janecke, Craig Blackstone, Michaela Auer-Grumbach
  • The American Journal of Human Genetics, January 2011, Elsevier
  • DOI: 10.1016/j.ajhg.2010.12.003

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The following have contributed to this page: Eleonore Fröhlich