Inherited Peripheral Neuropathies Mutation Database

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Reference

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

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