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- [2] SPTLC1 is mutated in hereditary sensory neuropathy, type 1 Nature Genetics, 2001, 27 : 261 - 262
- [9] Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I Nature Genetics, 2001, 27 : 309 - 312