doi: 10.1038/85817.
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
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- PMID: 11242106
- DOI: 10.1038/85817
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SPTLC1 is mutated in hereditary sensory neuropathy, type 1
Nat Genet.
2001 Mar.
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.
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