Publication | Open Access

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Cholesterol BiosynthesisBiosynthesisOxysterolBiochemistryGenetic DisorderNatural SciencesGeneticsBiochemical GeneticsMolecular BiologyGenetic MechanismMolecular GeneticsMedicineAutosomal Recessive Disorder