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

Author:

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.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

8 October 2010

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