SPTLC1 is mutated in hereditary sensory neuropathy, type 1.

Autor: Bejaoui, Khemissa, Wu, Chenyan, Scheffler, Margaret D., Haan, Geoffry, Ashby, Peter, Wu, Lianchan, de Jong, Peter, Brown, Robert H.
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Zdroj: Nature Genetics; Mar2001, Vol. 27 Issue 3, p261, 2p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index