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Article

Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report.

Journal of clinical lipidology - 1 Jan 2000

Kudo Takanori, Sasaki Kei, Tada Hayato

Abstract excerpt

Here, we present the first case of a Japanese patient with familial hypobetalipoproteinemia (HBL) that is caused by homozygous loss-of-function mutations in proprotein convertase subtilisin/kexin type 9 (PCSK9). A 46-year-old female patient who was born in a consanguineous marriage of parents who were second cousins was referred to our hospital due to decreased low-density lipoprotein (LDL)-cholesterolemia (22...

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Identifiers

PMID: 35931648
DOI: 10.1016/j.jacl.2022.07.010

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Familial hypobetalipoproteinemia caused by homozygous loss-of-function mutations in PCSK9: A case report.PMID 35931648Read ↗

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