Title : Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Pub. Date : 2019 Apr

PMID : 30985648






1 Functional Relationships(s)
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1 RATIONALE: Sitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol. Cholesterol ATP binding cassette subfamily G member 5 Homo sapiens