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Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family

Mendelian DisorderVariant InterpretationGenetic DisorderGeneticsAffected FamilyPathologyMolecular GeneticsDisease Gene IdentificationGene ExpressionMedicineEpigeneticsLysosomal Storage DiseaseChylomicron Retention DiseaseClinical Genetics