Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.

Ítems similars

• Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-VI Patients with Different Phenotype Severity
  per: Nouri, Nayerossadat, et al.
  Publicat: (2012)
• Enhancement of Residual Arylsulfatase B Activity in Feline Mucopolysaccharidosis VI by Thiol-induced Subunit Association
  per: Vine, Deborah T., et al.
  Publicat: (1982)
• Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity.
  per: Vine, D T, et al.
  Publicat: (1981)
• Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat.
  per: Haskins, M. E., et al.
  Publicat: (1981)
• Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI.
  per: Evers, M, et al.
  Publicat: (1996)