CJCP     2015 17 (8):  775-779    ISSN: 1008-8830  CN: 43-1301/R

Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency
WU Mo-Ling1, LIU Li1, MAO Xiao-Jian1, PENG Min-Zhi1, LIU Hong-Sheng2, SHENG Hui-Ying1, CAI Yan-Na1, MEI Hui-Fen1, FAN Chun1, HUANG Yong-Lan1, LI Xiu-Zhen1, CHENG Jing1
Department of Genetics and Endocrinology, Guangzhou Children and Women's Medical Center, Guangzhou 510623, China
Received: 2014-11-27  Revised: 2015-02-07  Online: null
Supporting info