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Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
- Source :
- Neurology (Ovid); June 2013, Vol. 80 Issue: 23 p2106-2111, 6p
- Publication Year :
- 2013
-
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 SPTLC2and to characterize the biochemical properties of this mutation.
Details
- Language :
- English
- ISSN :
- 00283878 and 1526632X
- Volume :
- 80
- Issue :
- 23
- Database :
- Supplemental Index
- Journal :
- Neurology (Ovid)
- Publication Type :
- Periodical
- Accession number :
- ejs49013892
- Full Text :
- https://doi.org/10.1212/WNL.0b013e318295d789