A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease

作者:Dou, Wei; Peng, Chao; Zheng, Junke; Gu, Xuefen; Fu, Lijun; Martiniuk, Frank; Sheng, Hui Z*
来源:Clinica Chimica Acta, 2006, 374(1-2): 145-146.
DOI:10.1016/j.cca.2006.04.007