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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

Journal

NATURE GENETICS
Volume 27, Issue 3, Pages 261-262

Publisher

NATURE AMERICA INC
DOI: 10.1038/85817

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Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to chromosome 9q22 (refs. 2-4). We report here that the gene encoding a sub-unit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

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