SPTLC1 is mutated in hereditary sensory neuropathy, type I

Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 24). 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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Bibliographic Details
Published inNature genetics Vol. 27; no. 3; pp. 261 - 262
Main Authors Bejaoui, K, Wu, Chenyan, Scheffler, MD, Haan, G, Ashby, P, Wu, Lianchan, de Jong, P, Brown Jr, RH
Format Journal Article
LanguageEnglish
Published 01.03.2001
Subjects
chromosome 9
sensory neuropathy type I
serine palmitoyltransferase
SPTLC1 gene
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Summary:Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 24). 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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ISSN:1061-4036