Mutations in ATP-cassette binding protei
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Jaroslav A. Hubacek; Knut E. Berge; Jonathan C. Cohen; Helen H. Hobbs
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Article
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2001
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John Wiley and Sons
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English
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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)