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2002•Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseOpen access

A “de novo” mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia

Livia Pisciotta, Alfredo Cantàfora, Francesco DE STEFANO, Silvia Langheim, Sebastiano Calandra, S Bertolini

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Key concepts: Familial hypercholesterolemia, Genetics, Mutation, Haplotype, Biology, Proband, Exon, Locus (genetics)

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