Article
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
American journal of human genetics - 1 Apr 1995
Boerkoel C F, Exelbert R, Nicastri C, Nichols R C, Miller F W, Plotz P H, Raben N
Abstract excerpt
An autosomal recessive deficiency of acid alpha-glucosidase (GAA), type II glycogenosis, is genetically and clinically heterogeneous. The discovery of an enzyme-inactivating genomic deletion of exon 18 in three unrelated genetic compound patients--two infants and an adult--provided a rare opportu...
Topics
- Adult
- Base Sequence
- DNA Mutational Analysis
- Exons
- Female
- Glucan 1,4-alpha-Glucosidase
- Glycogen Storage Disease Type II
- Humans
- Molecular Sequence Data
- Mutation
- Point Mutation
- Polymorphism, Genetic
- RNA Splicing
- Time Factors
- alpha-Glucosidases