Article
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
Nature genetics - 1 May 2003
Carlton Victoria E H, Harris Baruch Z, Puffenberger Erik G, Batta A K, Knisely A S, Robinson Donna L, Strauss Kevin A, Shneider Benjamin L, Lim Wendell A, Salen Gerald, Morton D Holmes, Bull Laura N
Abstract excerpt
Familial hypercholanemia (FHC) is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. We show here that FHC in Amish individuals is associated with mutations in tight junction protein 2 (encoded by TJP2, also known as ZO-2) and bile acid Coenzyme A: amino aci...
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