Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-1 and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively

Sitosterolemia is a rare autosomal recessive disorder characterized by (a) intestinal hyperabsorption of all sterols, including cholesterol and plant and shellfish sterols, and (b) impaired ability to excrete sterols into bile. Patients with this disease have expanded body pools of cholesterol and v...

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Main Authors: Lu, Kangmo, Lee, Mi-Hye, Hazard, Starr, Brooks-Wilson, Angela, Hidaka, Hideki, Kojima, Hideto, Ose, Leiv, Stalenhoef, Anton F. H., Mietinnen, Tatu, Bjorkhem, Ingemar, Bruckert, Eric, Pandya, Arti, Brewer, Jr., H. Bryan, Salen, Gerald, Dean, Michael, Srivastava, Anand, Patel, Shailendra B.
Format: Artigo
Language:Inglês
Published: The American Society of Human Genetics 2001
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1201544/
https://ncbi.nlm.nih.gov/pubmed/11452359
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