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
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

DOI: 10.7499/j.issn.1008-8830.2017.07.002

Keywords: 先天性胆汁酸合成障碍2型,AKR1D1基因,基因突变,儿童,
Congenital bile acid synthesis defect type 2,AKR1D1 gene,Mutation,Child

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