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KMID : 0816120120150020122
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Korean Journal of Pediatric Gastroenterolology and Nutrition
2012 Volume.15 No. 2 p.122 ~ p.126
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Benign Recurrent Intrahepatic Cholestasis with a Single Heterozygote Mutation in the ATP8B1 Gene
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Lee Yun-Seok
Kim Mi-Jin
Ki Chang-Seok
Lee Yoo-Min
Lee Yoon
Choe Yon-Ho
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Abstract
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Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by multiple recurrent episodes of severe cholestatic jaundice without obstruction of extrahepatic bile duct. We present the case of a 7-year-old boy with BRIC confirmed by mutation analysis in the ATP8B1 gene and typical clinical manifestation. Despite inheritance of BRIC, we detected a mutation on only one allele. To our knowledge, this is the first report of BRIC with a confirmed single heterozygote novel mutation in the ATP8B1 gene in Korea.
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KEYWORD
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Intrahepatic cholestasis, Single heterozygote, ATP8B1 gene
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