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    Nat Genet. 2001 Mar;27(3):261-2.

    SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

    Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr.

    C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA.

    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.

    PMID: 11242106 [PubMed - indexed for MEDLINE]

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