SPTLC1 is mutated in hereditary sensory neuropathy, type 1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-03

AUTHORS

Khemissa Bejaoui, Chenyan Wu, Margaret D. Scheffler, Geoffry Haan, Peter Ashby, Lianchan Wu, Peter de Jong, Robert H. Brown

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.

PAGES

261-262

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/85817

DOI

http://dx.doi.org/10.1038/85817

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017058791

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11242106


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192 schema:name C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA
193 rdf:type schema:Organization
194 grid-institutes:grid.417188.3 schema:alternateName Neuromuscular Clinic, EW502, Toronto Western Hospital, Toronto, Ontario, Canada
195 schema:name Neuromuscular Clinic, EW502, Toronto Western Hospital, Toronto, Ontario, Canada
196 rdf:type schema:Organization
 




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