SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
Bejaoui K; Wu C; Scheffler MD; Haan G; Ashby P; Wu L; de Jong P; Brown RH Jr; Nature Genetics, 2001, vol. 27, issue 3, p 261, ISSN 10614036. ISBN 10614036.

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