Publication | Open Access

Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)

Molecular NeuroscienceBiochemistryGenetic DisorderNatural SciencesGeneticsNucleotide BiosynthesisOptic NeuropathyMolecular BiologyDegenerative DiseaseMolecular GeneticsDisease Gene IdentificationPeripheral NervesMedicineNeurogeneticsHearing Loss