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4. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Rotthier A; Penno A; Rautenstrauss B; Auer-Grumbach M; Stettner GM; Asselbergh B; Van Hoof K; Sticht H; Lévy N; Timmerman V; Hornemann T; Janssens K Hum Mutat; 2011 Jun; 32(6):E2211-25. PubMed ID: 21618344 [TBL] [Abstract][Full Text] [Related]
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