|
type |
Journal Article |
authors |
Bejaoui, K.; Wu, C.; Scheffler, M. D.; Haan, G.; Ashby, P.; Wu, L.; de Jong, P.; Brown, R. H., Jr. |
title |
SPTLC1 is mutated in hereditary sensory neuropathy, type 1 |
journal |
Nat Genet |
Activity |
2.3.1.50 |
ui |
21135086 |
year |
(2001) |
volume |
27 |
number |
3 |
pages |
261-2. |
| |
keywords |
Acyltransferases/*genetics |
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. |
last changed |
2002/11/04 17:41 |
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