A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family

A simple salting out procedure for extracting DNA from human nucleated cells

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The Metabolic Basis of Inherited Disease.

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Metabolic Syndrome, Energy Metabolism, Disease Mechanism +12

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

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The Metabolic Basis of Inherited Diseases

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Binding and Degradation of Low Density Lipoproteins by Cultured Human Fibroblasts

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Lipid Analysis, Hyperlipidemia, Low Density +19