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Article

Compound heterozygous mutations in ABCG5 or ABCG8 causing Chinese familial Sitosterolemia.

The journal of gene medicine - 1 Aug 2020

Sun Weiwei, Zhang Tian, Zhang Xiaoguang, Wang Jieyu, Chen Yuqing, Long Yun, Zhang Gong, Wang Yajian, Chen Ye, Fang Tao, Chen Mingwu

Abstract excerpt

BACKGROUND: Sitosterolemia (STSL), also known as phytosterolemia, is a rare autosomal recessive hereditary disease caused by mutations in the ABCG5 or ABCG8 genes. The disease is a result of disorders in lipoprotein metabolism, and is characterized by tendinous and tuberous xanthomas, elevated plasma cholesterol and phytosterol levels, and thrombocytopenia and hemolytic anemia in several patients. The...

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PMID: 32166861
DOI: 10.1002/jgm.3185

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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