title: A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
authors.forename: Wei
authors.initials: W
authors.lastname: Dou
authors.forename: Chao
authors.initials: C
authors.lastname: Peng
authors.forename: Junke
authors.initials: J
authors.lastname: Zheng
authors.forename: Xuefen
authors.initials: X
authors.lastname: Gu
authors.forename: Lijun
authors.initials: L
authors.lastname: Fu
authors.forename: Frank
authors.initials: F
authors.lastname: Martiniuk
authors.forename: Hui Z
authors.initials: HZ
authors.lastname: Sheng
mesh_terms: 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*
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases