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Article

[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 May 2011

Wang Gai-feng, Wang Zhao-yue, Cao Li-juan, Jiang Ming-hua, Sun Xiong-hua, Bai Xia, Ruan Chang-geng

Abstract excerpt

OBJECTIVE: To study the clinical features and ABCG5/ABCG8 gene mutations of three pedigrees of phytosterolemia presented with macrothrombocytopenia and hemolysis. METHODS: Erythrocyte and platelet morphology were examined under light microscope. Plasma sterol levels were measured by high pressure/performance liquid chromatography method. All of ABCG5 and ABCG8 exons and intron-exon boundaries were directly...

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Source

Identifiers

PMID: 21729603

Genes

ABCG5
ABCG8

Variants

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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