Article
Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes.
American journal of human genetics - 1 Mar 1994
Isbrandt D, Arlt G, Brooks D A, Hopwood J J, von Figura K, Peters C
Abstract excerpt
Mucopolysaccharidosis type VI, or Maroteaux-Lamy syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B (ASB), also known as N-acetylgalactosamine-4-sulfatase. Multiple clinical phenotypes of this autosomal recessively inherited disease have been described....
Topics
- Alleles
- Amino Acid Sequence
- Animals
- Arginine
- Base Sequence
- Cell Line
- Cells, Cultured
- Child, Preschool
- Chondro-4-Sulfatase
- Chromosome Mapping
- Consanguinity
- Cysteine
- DNA
- DNA Primers
- DNA Transposable Elements
- Exons
- Female
- Humans