Article
Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
Biochemical and biophysical research communications - 15 Feb 1996
Shieh J J, Lin C Y
Abstract excerpt
Glycogen storage disease type II (GSD II, Pompe's disease) is an autosomal recessive inherited disease caused by the deficiency of acid alpha-D-glucosidase. In this paper we report two unrelated Chinese patients with infantile form of GSD II who had compound heterozygotes containing a small delet...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- China
- Cloning, Molecular
- DNA Primers
- Exons
- Female
- Frameshift Mutation
- Glycogen Storage Disease Type II
- Humans
- Infant
- Male
- Molecular Sequence Data
- Peptide Chain Termination, Translational
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length