丙酮酸脱氢酶缺乏症PDHA1基因的一个新突变及其致病性鉴定
吴莫龄, 刘丽, 毛晓健, 彭敏芝, 刘鸿圣, 盛慧英, 蔡燕娜, 梅慧芬, 樊春, 黄永兰, 李秀珍, 程静
Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency
WU Mo-Ling, LIU Li, MAO Xiao-Jian, PENG Min-Zhi, LIU Hong-Sheng, SHENG Hui-Ying, CAI Yan-Na, MEI Hui-Fen, FAN Chun, HUANG Yong-Lan, LI Xiu-Zhen, CHENG Jing
中国当代儿科杂志
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2015, (8): 775
-779
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DOI: 10.7499/j.issn.1008-8830.2015.08.003
