Mutations in theSPTLC2Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I


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 Löscher,Petr Vondráček,Pavel Seeman,Peter De Jonghe,Patrick Van Dijck, et al.


The American Journal of Human Genetics




8 October 2010

Copyright © 2010, Elsevier

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