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.
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DOI: 10.1016/j.jacl.2022.01.007
Abstract: 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… read more here.
Keywords: large family; duplication; ldlr gene; family familial ... See more keywords