SPTLC1 is mutated in hereditary sensory neuropathy, type 1

Authors
Bejaoui, K Wu, CY Sheffler, MD Haan, G Ashby, P Wu, LC de Jong, P Brown, RH
Citation
K. Bejaoui et al., SPTLC1 is mutated in hereditary sensory neuropathy, type 1, NAT GENET, 27(3), 2001, pp. 261-262
Citations number
18
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
27
Issue
3
Year of publication
2001
Pages
261 - 262
Database
ISI
SICI code
1061-4036(200103)27:3<261:SIMIHS>2.0.ZU;2-E
Abstract
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.