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B6db references: 21135086

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
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

B6db references