Article
A novel heterozygous NR1H4 termination codon mutation in idiopathic infantile cholestasis.
World journal of pediatrics : WJP - 1 Feb 2012
Chen Xiu-Qi, Wang Lin-Lin, Shan Qing-Wen, Tang Qing, Deng Ya-Nan, Lian Shu-Jun, Yun Xiang
Abstract excerpt
BACKGROUND: This study aimed to evaluate the genetic effect of the NR1H4 gene in the pathogenesis of idiopathic infantile cholestasis of Chinese subjects in Guangxi, China. METHODS: Seventy-eight patients with idiopathic infantile cholestasis served as a study group and 95 infants without cholestasis as controls. Genomic DNA was extracted from peripheral venous blood leucocytes by phenol chloroform procedures....
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