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Article

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia

13 Jun 2013

Abstract excerpt

Patients with autosomal dominant hypercholesterolemia (ADH) have a high risk of developing cardiovascular disease that can be effectively treated using statin drugs. Molecular diagnosis and family cascade screening is recommended for early identification of individuals at risk, but up to 40% of families have no mutation detected in known genes. This study combined linkage analysis and exome sequencing to identify...

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PMID: 24498611
DOI: 10.1002/mgg3.17

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