Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identifcation of 2 novel mutations in AKR1D1 gene
CHENG Ying, GUO Li, DENG Mei, SONG Yuan-Zong
CJCP . 2017, (7): 734 -740 .  DOI: 10.7499/j.issn.1008-8830.2017.07.002