New publication online in the AJHG

Neveling , Kornelia

New publication describing a new gene for spinal muscular dystrophy that we have found by exome sequencing. 

Mutations inBICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker, Angelien Heister, Aad Verrips, Seyyed Mohsen Hosseini-Barkooie, Christian Gilissen, Sascha Vermeer, Maartje Pennings, Rowdy Meijer, Margot te Riele, Catharina J.M. Frijns, Oksana Suchowersky, Linda MacLaren, Sabine Rudnik-Schöneborn, Richard J. Sinke, Klaus Zerres, R. Brian Lowry, Henny H. Lemmink, Lutz Garbes, Joris A. Veltman, Helenius J. Schelhaas, Hans Scheffer and Brunhilde Wirth.
10.1016/j.ajhg.2013.04.011


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