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Sitosterolemia 2
- ... Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children. J Inherit Metab Dis. 2010 Aug;33(4):437-43. doi: 10.1007/s10545-010-9126-2. Epub 2010 Jun 3. Citation on PubMed Rudkowska ...
- ... be at least 1 in 50,000 people. Sitosterolemia is caused by mutations in the ABCG5 or ABCG8 gene. These genes provide instructions for making the two halves of a protein called sterolin. This protein ...