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
程映, 郭丽, 邓梅, 宋元宗
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
中国当代儿科杂志
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2017, (7): 734
-740
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DOI: 10.7499/j.issn.1008-8830.2017.07.002
