英语词汇“familial hypercholanaemia”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	familial hypercholanaemia
释义	familial hypercholanaemia familial hypercholanaemia A disorder (OMIM:607748) characterised by elevated serum bile acid concentrations, pruritus, and fat malabsorption. Molecular pathology Caused by defects of • TJP2, which encodes tight junction protein 2; • BAAT, which encodes an enzyme involved in bile acid-amino acid conjugate formation; and • EPHX1, which encodes epoxide hydrolase-1, a biotransformation enzyme.
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