%0 Journal Article
%T 先天性胆汁酸合成障碍2型一家系临床和遗传学分析:两个AKR1D1新突变的识别<br>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
%A 程映
%A 郭丽
%A 邓梅
%A 宋元宗&lt
%A br&gt
%A CHENG Ying
%A GUO Li
%A DENG Mei
%A SONG Yuan-Zong
%J 中国当代儿科杂志
%D 2017
%R 10.7499/j.issn.1008-8830.2017.07.002
%K 先天性胆汁酸合成障碍2型
%K AKR1D1基因
%K 基因突变
%K 儿童
%K &lt
%K br&gt
%K Congenital bile acid synthesis defect type 2
%K AKR1D1 gene
%K Mutation
%K Child
%U http://www.zgddek.com/CN/abstract/abstract14326.shtml