SPTLC1 is mutated in hereditary sensory neuropathy, type 1

被引：0
|
作者：
Khemissa Bejaoui
Chenyan Wu
Margaret D. Scheffler
Geoffry Haan
Peter Ashby
Lianchan Wu
Peter de Jong
Robert H. Brown
机构：
[1] C.B. Day Laboratory for Neuromuscular Research,
[2] Massachusetts General Hospital (East),undefined
[3] Neuromuscular Clinic,undefined
[4] EW502,undefined
[5] Toronto Western Hospital,undefined
[6] Pfizer Laboratory for Molecular Genetics,undefined
来源：
Nature Genetics | 2001年 / 27卷
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摘要：
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.
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页码：261 / 262
页数：1
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