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A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects

A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects

Source : https://casereports.onlinejacc.org/content/2/5/775

A novel frameshift variant was identified in APOB that segregates in a dominant manner with low levels of low-density lipoprotein cholesterol. Affected family members show no apparent clinical complications. There is no consensus regarding clinical management, and the long-term consequences of low levels of low-density lipoprotein cholesterol remain unknown.