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Article

A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.

Journal of atherosclerosis and thrombosis - 1 May 2026

Okada Takeshi, Yamashita Shizuya, Tada Hayato, Tsukamoto Kazuhisa, Togo Masako, Kawashiri Masa-Aki, Nakamura Kimitoshi, Dobashi Kazushige, Ikewaki Katsunori, Yoshida Hiroshi, Harada-Shiba Mariko

Abstract excerpt

AIM: Since comprehensive data on the pathogenic variants of ABCG5 and ABCG8 and clinical features in sitosterolemia remain limited, we aimed to compile a catalog through an extensive literature search of case reports from 2002 to 2024, as well as an evaluation of variants reported in review articles. METHODS: We compiled 155 cases of sitosterolemia from 133 families with nonsynonymous variants in ABCG5 and ABCG8,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP Binding Cassette Transporter, Subfamily G, Member 5

Share to ATP Binding Cassette Transporter, Subfamily G, Member 8

Share to Hypercholesterolemia

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Share to Lipid Metabolism, Inborn Errors

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Source

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Identifiers

PMID: 41672494
DOI: 10.5551/jat.RV22049
PMCID: PMC13158039

Genes

ABCG5
ABCG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.PMID 41672494Read ↗

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