Article
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.
The Journal of biological chemistry - 15 Nov 1991
Wicker G, Prill V, Brooks D, Gibson G, Hopwood J, von Figura K, Peters C
Abstract excerpt
The Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is a lysosomal storage disease with autosomal recessive inheritance caused by deficiency of the enzyme arylsulfatase B. Severe, intermediate, and mild forms of the disease have been described. The molecular correlate of the clinical hete...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blotting, Western
- Cell Line
- Chondro-4-Sulfatase
- Cloning, Molecular
- Glycine
- Humans
- Kinetics
- Molecular Sequence Data
- Mucopolysaccharidosis VI
- Mutagenesis, Site-Directed
- Mutation
- Oligodeoxyribonucleotides
- Phenotype
- Polymerase Chain Reaction
- RNA