Exome Sequencing in Suspected Monogenic Dyslipidemias

Abstract excerpt

BACKGROUND: Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We used this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. METHODS AND RESULTS: We performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein cholesterol (after candidate gene sequencing...

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