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Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Molecular NeuroscienceMolecular PhysiologyAutonomic Neuropathy TypeGenetic DisorderMendelian DisorderGeneticsMolecular BiologyDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationSptlc2 SubunitMedicineNeurogenetics