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Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population

Clinical Diagnosis CriteriaGeneticsInherited Metabolic DiseaseGenetic EpidemiologyHuman PolymorphismHyperlipidemiaLipoprotein Phenotype ComparisonPublic HealthMedicineAtherosclerosisApob GeneEpidemiologyVariant InterpretationClinical Genetics