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Article

Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia.

Journal of clinical lipidology - 1 Jan 2000

Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Takamura Masayuki, Kawashiri Masa-Aki

Abstract excerpt

BACKGROUND: Data on the effect of variants of uncertain significance (VUS) of LDL receptor (LDLR) on familial hypercholesterolemia (FH) phenotype is limited. OBJECTIVE: To investigate the associations between genotypes and phenotypes, including low-density lipoprotein (LDL) cholesterol level and occurrence of major adverse cardiac events (MACEs), in FH patients (N = 1050, male/female = 490/560). METHODS: We...

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Share to Cholesterol, LDL
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36229376
DOI: 10.1016/j.jacl.2022.09.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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