CJCP     2017 19 (7):  734-740    ISSN: 1008-8830  CN: 43-1301/R 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 First Affiliated Hospital, Jinan University, Guangzhou 510630, China Received: 2017-04-11  Revised: 2017-05-12  Online: null Supporting info