Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie
M L
ML
New York University Medical Center, Department of Medicine, New York 10016.
Hirschhorn
R
R
Chen
A S
AS
Martiniuk
F
F
Zhong
N
N
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