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Article

Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2000

Ohta Naotaka, Hori Mika, Takahashi Atsushi, Ogura Masatsune, Makino Hisashi, Tamanaha Tamiko, Fujiyama Hiromi, Miyamoto Yoshihiro, Harada-Shiba Mariko

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is caused by mutations in the genes encoding low-density lipoprotein receptor (LDLR), apolipoprotein B, or proprotein convertase subtilisin/kexin 9 (PCSK9). However, FH shows variability of the clinical phenotype modified by other genetic variants or environmental factors. OBJECTIVE: Our objective was to determine the distribution of PCSK9 variants in Japanese FH...

Read the complete abstract on PubMed

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Share to Cardiovascular Diseases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hyperlipoproteinemia Type II

Share to Lipids

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Share to Polymorphism, Single Nucleotide

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 27206942
DOI: 10.1016/j.jacl.2015.12.024

Genes

PCSK9
LDLR
CAD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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