SPTLC1 is mutated in hereditary sensory neuropathy, type 1
- 1 March 2001
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 27 (3) , 261-262
- https://doi.org/10.1038/85817
Abstract
Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2-4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.Keywords
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