Article
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
Human mutation - 1 Jan 1997
Adams E M, Becker J A, Griffith L, Segal A, Plotz P H, Raben N
Abstract excerpt
The recessively inherited deficiency of acid alpha-glucosidase (GAA) called Glycogenosis Type II is expressed as three different phenotypes: infantile, juvenile, and adult. At the molecular level, infantile and adult forms of the disease have been extensively studied, but little is known regardin...
Topics
- Base Sequence
- Black People
- Child
- Exons
- Female
- Glucan 1,4-alpha-Glucosidase
- Glycogen Storage Disease Type II
- Heterozygote
- Humans
- Infant
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Polymorphism, Genetic
- RNA Splicing
- alpha-Glucosidases
- Black or African American