Article
Genotype of UGT1A1 and phenotype correlation between Crigler-Najjar syndrome type II and Gilbert syndrome.
Journal of gastroenterology and hepatology - 1 Feb 2016
Maruo Yoshihiro, Nakahara Sayuri, Yanagi Takahide, Nomura Akitaka, Mimura Yu, Matsui Katsuyuki, Sato Hiroshi, Takeuchi Yoshihiro
Abstract excerpt
BACKGROUND AND AIMS: Hereditary unconjugated hyperbilirubinemias, Crigler-Najjar syndrome type I, Crigler-Najjar syndrome type II (CN-2), and Gilbert syndrome (GS) all result from mutations of the bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene (UGT1A1). Often, to distinguish between CN-2 and GS is difficult because the borderline of the two syndromes is unclear. We analyzed the genotypes and...
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