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  • Molecular assay reagents intended to identify mutations in the serine palmitoyltransferase, long chain base subunit 1 (SPTLC1) gene, located at chromosome 9q22.1-q22.3, which encodes for a subunit of the primary enzyme responsible for sphingolipid synthesis. This inherited genetic mutation has been identified in patients with hereditary sensory neuropathy type 1 (HSN1).
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