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    SPTLC1 is mutated in hereditary sensory neuropathy, type 1

    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 wit...

    Khemissa Bejaoui, Chenyan Wu, Margaret D. Scheffler, Geoffry Haan… in Nature Genetics (2001)