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Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia

Book ID
118630819
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
154 KB
Volume
3
Category
Article
ISSN
1567-5688

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Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia
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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

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Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA)