Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Authors: Ingo Kurth, Torsten Pamminger, J. Christopher Hennings, Désirée Soehendra, Antje K. Huebner, Annelies Rotthier, Jonathan Baets, Jan Senderek, Haluk Topaloğlu, Sandra A. Farrell, Gudrun Nürnberg, Peter Nürnberg, Peter De Jonghe, Andreas Gal, Christoph Kaether, Vincent Timmerman, Christian A. Hübner - Nature Genetics 2009 cited by 256