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HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship

Bode, Heiko ; Bourquin, Florence ; Suriyanarayanan, Saranya ; Wei, Yu ; Alecu, Irina ; Othman, Alaa ; Von Eckardstein, Arnold ; Hornemann, Thorsten

In: Human Molecular Genetics, 2016, vol. 25, no. 5, p. 853-865

Consortium of Swiss Academic Libraries

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

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