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A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients

Mendelian DisorderBiochemistryGenetic DisorderNatural SciencesGeneticsInherited Metabolic DiseaseMolecular BiologyMolecular GeneticsDisease Gene IdentificationGenomicsNonsense MutationGene ExpressionMedicineEpigeneticsEuropean Mediterranean PatientsExon 2