title: Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
authors.affiliation: New York University Medical Center, Department of Medicine, New York 10016.
authors.forename: M L
authors.initials: ML
authors.lastname: Huie
authors.forename: R
authors.initials: R
authors.lastname: Hirschhorn
authors.forename: A S
authors.initials: AS
authors.lastname: Chen
authors.forename: F
authors.initials: F
authors.lastname: Martiniuk
authors.forename: N
authors.initials: N
authors.lastname: Zhong
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006009:Glycogen Storage Disease Type II / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction