Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION（2008）
关键词
bilirubin UDP-glucuronosyltransferase,Crigler-Najjar syndrome,UGT1A1,unconjugated hyperbilirubinemia,Western blotting
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