Inherited Peripheral Neuropathies Mutation Database

Home | Inherited Peripheral Neuropathies |
Lookup Mutations | Newest Entries | Submit Mutation | Table Legend |
About IPN | Contact |

IPN Mutations

small logo

Reference

Title Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base sununit-1, cause hereditary sensory neuropathy type 1
Authors Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA
Reference Nat Genet 27: 309-312, 2001 (PubMed ID: 11242114 )
SPTLC1: (Cys133Tyr) (Cys133Trp) (Val144Asp)
Mutations

About Us | Contact Us | ©2007 Department of Molecular Genetics - VIB8