Article
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
Journal of medical genetics - 1 Jul 2004
Tomatsu S, Nishioka T, Montaño A M, Gutierrez M A, Pena O S, Orii K O, Sly W S, Yamaguchi S, Orii T, Paschke E, Kircher S G, Noguchi A
Abstract excerpt
No abstract is available from the source.
Topics
- Adolescent
- Child
- Chondroitinsulfatases
- CpG Islands
- DNA
- DNA Methylation
- DNA Mutational Analysis
- Female
- Genetic Testing
- Genome, Human
- Humans
- Male
- Mucopolysaccharidoses
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
