ATP-binding cassette, subfamily G (ABCG family)
โ Scribed by Hiroyuki Kusuhara; Yuichi Sugiyama
- Book ID
- 106109815
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 232 KB
- Volume
- 453
- Category
- Article
- ISSN
- 0031-6768
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๐ SIMILAR VOLUMES
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)
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