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Rotthier, A; Penno, A; Rautenstrauss, B; Auer-Grumbach, M; Stettner, G M; Asselbergh, B; Van Hoof, K; Sticht, H; Lévy, N; Timmerman, V; Hornemann, T; Janssens, K (2011). Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Human Mutation, 32(6):E2211-E2225.