Clinical signs and genetic sequencing of benign recurrent intrahepatic cholestasis

被引:0
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作者
ZE Xing-yu [1 ]
ZHAO Xin-yan [1 ]
JIANG Jun [2 ]
JIA Ji-dong [1 ]
WANG Tai-ling [3 ]
WANG Bao-en [4 ]
机构
[1] Liver Disease Research Center,Beijing Friendship Hospital,Capital Medical University
[2] Key Laboratory of Genome Sciences and Information,Beijing Institute of Genomics,Chinese Academy of Sciences
[3] Department of Pathology,China-Japan Friendship Hospital
[4] Beijing Institute of Integrated Traditional and Western Medicine,Beijing Friendship Hospital,Capital Medical University
关键词
D O I
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中图分类号
R575 [肝及胆疾病];
学科分类号
1002 ; 100201 ;
摘要
Benign recurrent intrahepatic cholestasis(BRIC)is a rare autosomal recessive liver disease characterized by intermittent attacks of cholestasis that was first reported by Summerskill and Walshe in 1959.A few reports on patients with BRIC in China have been described in recent years,however,it is still a challenge to give the patients a correct diagnosis.Therefore,we collected five cases in the Beijing Friendship Hospital and the China-Japan Friendship Hospital in the past two years to summarize their clinical features,and explore the mutation region of the ATP8B1gene from Chinese patients with BRIC.
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页码:4802 / 4803
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