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Publication Detail
Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity
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Publication Type:Journal article
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Publication Sub Type:Article
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Authors:Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, Laura M, Liu Y-T, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T
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Publisher:HUMANA PRESS INC
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Publication date:01/03/2015
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Pagination:47, 57
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Journal:NEUROMOLECULAR MEDICINE
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Volume:17
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Issue:1
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Status:Published
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Print ISSN:1535-1084
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Language:English
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Keywords:Science & Technology, Life Sciences & Biomedicine, Neurosciences, Neurosciences & Neurology, Serine palmitoyltransferase, 1-Deoxysphingolipids, Sensory neuropathy, HSAN1, Sphingolipids, HEREDITARY SENSORY NEUROPATHY, SPHINGOLIPID HOMEOSTASIS, PROTEINS MEDIATE, TYPE-1, BIOSYNTHESIS, ACCUMULATION, SUBUNITS, SPTLC1
Abstract
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