Metabolism and Genetics of Hypobetalipoproteinemia

Study ID Alternative Stable ID Type
phs000561 Probands

Study Description

Hypobetalipoproteinemia is characterized by extremely low levels of low-density lipoprotein cholesterol. Familial hypobetalipoproteinemia (FHBL) is a monogenic form of hypobetalipoproteinemia caused by mutations in the APOB gene. There are cases of hypobetalipoproteinemia not caused by mutations in APOB, however. The purpose of this study is to identify novel genetic causes of hypobetalipoproteinemia.

Archive Link Archive Accession
dbGaP phs000561

Who archives the data?

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