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Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

Ernst, Daniela ; Murphy, Sinéad ; Sathiyanadan, Karthik ; Wei, Yu ; Othman, Alaa ; Laurá, Matilde ; Liu, Yo-Tsen ; Penno, Anke ; Blake, Julian ; Donaghy, Michael ; Houlden, Henry ; Reilly, Mary ; Hornemann, Thorsten

In: NeuroMolecular Medicine, 2015, vol. 17, no. 1, p. 47-57

Consortium of Swiss Academic Libraries

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

Hornemann, Thorsten ; Penno, Anke ; Richard, Stephane ; Nicholson, Garth ; van Dijk, Fleur ; Rotthier, Annelies ; Timmerman, Vincent ; von Eckardstein, Arnold

In: neurogenetics, 2009, vol. 10, no. 2, p. 135-143

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