A Family with Familial Hypobetalipoproteinemia Caused by a c.1468C>T in APOB.

Abstract excerpt

We herein report the first family of Japanese individuals with familial hypobetalipoproteinemia caused by the c.1468C>T mutation in apolipoprotein B (APOB). A 13-year-old boy with extremely low levels of low-density lipoprotein (LDL) cholesterol (24 mg/dL) was referred to our hospital. The patient had no secondary causes of hypobetalipoproteinemia. His father and grandmother also exhibited low LDL cholesterol...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Apolipoproteins B
• Share to Cholesterol, LDL