丙酮酸激酶缺乏症患儿PKLR基因新发突变分析及文献复习
李子丰，翟晓文，钱茂祥，王宏胜，张红红
Discovery of a PKLR gene novel mutation in a pyruvate kinase deficiency patient and literature review
LI Zifeng, ZHAI Xiaowen, QIAN Maoxiang, WANG Hongsheng, ZHANG Honghong
.
2021, (02): 108
-112
.
DOI: 10.13683/j.wph.2021.02.006
