title: Identification of a de Novo point mutation resulting in infantile form of Pompe's disease.
authors.forename: C Y
authors.initials: CY
authors.lastname: Lin
authors.forename: J J
authors.initials: JJ
authors.lastname: Shieh
mesh_terms: D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D003062:Codon; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D017354:Point Mutation; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D003062:Codon; D001224:Aspartic Acid; D000520:alpha-Glucosidases