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SPTLC1 is mutated in hereditary sensory neuropathy, type 1
K Bejaoui1, C Wu, M D Scheffler
1C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA.
Nature Genetics
|March 10, 2001
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.