Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Authors: Annelies Rotthier, Michaela Auer‐Grumbach, Katrien Janssens, Jonathan Baets, Anke Penno, Le­onardo Almeida-Souza, Kim van Hoof, An Jacobs, Els De Vriendt, Beate Schlotter‐Weigel, Wolfgang N. Löscher, Petr Vondráček, Pavel Seeman, Peter De Jonghe, Patrick Van Dijck, Albena Jordanova, Thorsten Hornemann, Vincent Timmerman - The American Journal of Human Genetics 2010 cited by 189