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
CJCP . 2015, (8): 775 -779 .  DOI: 10.7499/j.issn.1008-8830.2015.08.003