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The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia

10 Nov 2016

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal dominant disorder. Although genetic testing is an important tool for detecting FH-causing mutations in patients, diagnostic methods for young patients with severe hypercholesterolemia are understudied. This study compares the target exome sequencing (TES) technique with the DNA resequencing array technique on young patients with severe hypercholesterolemia. A...

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PMID: 27830735
DOI: 10.1038/srep36823

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