A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Dou
Wei
W
Peng
Chao
C
Zheng
Junke
J
Gu
Xuefen
X
Fu
Lijun
L
Martiniuk
Frank
F
Sheng
Hui Z
HZ
D001483:Base Sequence; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D000520:alpha-Glucosidases / Q000235:genetics*
C509951:GAA protein, human; D000520:alpha-Glucosidases