%0 Journal Article
%T 线粒体DNA耗竭综合征1例临床特点和DGUOK基因突变分析<br>Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome
%A 邓梅
%A 林伟霞
%A 郭丽
%A 张占会
%A 宋元宗&lt
%A br&gt
%A DENG Mei
%A LIN Wei-Xia
%A GUO Li
%A ZHANG Zhan-Hui
%A SONG Yuan-Zong
%J 中国当代儿科杂志
%D 2016
%R 10.7499/j.issn.1008-8830.2016.06.015
%K 线粒体DNA耗竭综合征
%K 外显子捕获测序
%K DGUOK基因
%K 基因突变
%K 婴儿
%K &lt
%K br&gt
%K Mitochondrial DNA depletion syndrome
%K Targeted Exome Sequencing
%K DGUOK gene
%K Gene mutation
%K Infant
%U http://www.zgddek.com/CN/abstract/abstract13924.shtml