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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.

Murphy, SM; Ernst, D; Wei, Y; Laurà, M; Liu, YT; Polke, J; Blake, J; ... Reilly, MM; + view all (2013) Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. Neurology , 80 (23) 2106 - 2111. 10.1212/WNL.0b013e318295d789. Green open access

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Abstract

To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation.

Type: Article
Title: Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1212/WNL.0b013e318295d789
Publisher version: http://dx.doi.org/10.1212/WNL.0b013e318295d789
Language: English
Additional information: © 2013 American Academy of Neurology. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: Adult, Hereditary Sensory and Autonomic Neuropathies, Humans, Mutation, Pedigree, Phenotype, Sequence Analysis, DNA, Serine C-Palmitoyltransferase, Sphingolipids
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1393821
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