| Title | SPTLC1 is mutated in hereditary sensory neuropathy, type 1. |
|---|---|
| Authors | Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L, de Jong P, Brown RH Jr. |
| Reference | Nat Genet 27: 261-262, 2001 (PubMed ID: 11242106 ) |
| SPTLC1: (Cys133Tyr) (Cys133Trp) | |
| Mutations |