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Article

Genetic basis and hematologic manifestations of sitosterolemia in a group of Turkish patients.

Journal of clinical lipidology - 1 Jan 2000

Kaya Zühre, Sal Ertan, Yorulmaz Aslı, Hsieh Yu-Ping, Gülen Hüseyin, Yıldırım Ayşen Türedi, Niu Dau-Ming, Tekin Aziz

Abstract excerpt

BACKGROUND: Sitosterolemia is a rare lipid disorder caused by mutations in adenosine triphosphate-binding cassette genes (ABCG) 5 and 8. OBJECTIVE: To evaluate the phenotypic/genotypic features of sitosterolemia in a group of Turkish patients. METHODS: Seven probands with unexplained hematologic abnormalities and their 13 relatives were enrolled. Sterol levels were measured by gas chromatography and genetic...

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Share to ATP Binding Cassette Transporter, Subfamily G, Member 5
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34304999
DOI: 10.1016/j.jacl.2021.07.001

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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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