Article
Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.
Current opinion in lipidology - 1 Jun 2014
Patel Shailendra B
Abstract excerpt
PURPOSE OF REVIEW: To provide an update on recent advances made in our mechanistic and pathophysiological understanding of the rare human disease Sitosterolemia, the role of ABCG5/ABCG8 in sterol trafficking and how newer data implicate a more wider role in the body. RECENT FINDINGS: Sitosterolemia is caused by a genetic defect of sterolins (ABCG5/ABCG8) mapped to the STSL locus. Polymorphic variations in STSL...
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