Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.

Abstract excerpt

BACKGROUND: We found a large family with familial hypercholesterolemia (FH) that included 7 siblings who all developed myocardial infarction. OBJECTIVE: The aim of this study was to identify the pathogenic gene underlying FH in the family. METHODS: Whole-genome sequencing (WGS) was performed in 12 affected and 10 unaffected individuals in the family. RESULTS: WGS identified a novel large duplication: copy number...

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