Title : Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.

Pub. Date : 2017 Jul

PMID : 28521186






1 Functional Relationships(s)
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1 Sitosterolemia is a recessive disorder characterized by high plasma levels of cholesterol and plant sterols due to mutations in the ABCG5 or the ABCG8 gene, leading to a loss of function of the ATP-binding cassette (ABC) heterodimer transporter G5-G8. Cholesterol ATP binding cassette subfamily G member 5 Homo sapiens