A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis

World Journal of Pediatrics

Volumn 8, Issue 1, 2012, Pages 67-71

  Chen, Xiu Qi ^a   Wang, Lin Lin ^a   Shan, Qing Wen ^a   Tang, Qing ^a   Deng, Ya Nan ^a   Lian, Shu Jun ^a   Yun, Xiang ^a  

^a GUANGXI MEDICAL UNIVERSITY   (China)

Author keywords

Cholestasis; Farnesoid X receptor; Infant; Mutation; NR1H4

Indexed keywords

ALANINE AMINOTRANSFERASE; BILIRUBIN; GAMMA GLUTAMYLTRANSFERASE;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASCITES; BILIRUBIN BLOOD LEVEL; CHOLESTASIS; CODON; CONTROLLED STUDY; GAMMA GLUTAMYL TRANSFERASE BLOOD LEVEL; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; IDIOPATHIC INFANTILE CHOLESTASIS; INFANT; INFANT DISEASE; LIVER CIRRHOSIS; NR1H4 GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGICAL MARKERS; CASE-CONTROL STUDIES; CHOLESTASIS; CODON, TERMINATOR; DIAGNOSIS, DIFFERENTIAL; EXONS; HETEROZYGOTE; HUMANS; INFANT; MUTATION; POLYMERASE CHAIN REACTION; PROGNOSIS; RECEPTORS, CYTOPLASMIC AND NUCLEAR;

EID: 84859795868     PISSN: 17088569     EISSN: 18670687     Source Type: Journal    
DOI: 10.1007/s12519-011-0299-z     Document Type: Article

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