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Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes

Transcriptional RegulationAllelic VariantGenetic DisorderGeneticsClinical PhenotypesMolecular GeneticsDisease Gene IdentificationGene ExpressionMedicineCell BiologyDifferential Allelic ExpressionPremature Termination Mutations