Mutations in the human ATP-binding casse
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Susanne Heimer; Thomas Langmann; Christoph Moehle; Richard Mauerer; Michael Dean
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Article
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2002
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John Wiley and Sons
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English
⚖ 275 KB
Phytosterolemia or Sitosterolemia is a rare autosomal recessive disorder characterized by highly elevated plasma levels of plant sterols and cholesterol as a consequence of hyperabsorption and impaired biliary secretion of sterols. The disease is caused by mutations in two half size ATP-binding cass