SPTLC1 is mutated in hereditary sensory neuropathy, type 1
K Bejaoui, C Wu, MD Scheffler, G Haan, P Ashby… - Nature …, 2001 - nature.com
K Bejaoui, C Wu, MD Scheffler, G Haan, P Ashby, L Wu, P de Jong, RH Brown
Nature genetics, 2001•nature.comHereditary 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.
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.
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.
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