Expression of five iduronate-2-sulfatase site-directed mutations

This publication has 31 references indexed in Scilit:

• COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1998
• IDS Transfer from Overexpressing Cells to IDS-Deficient Cells
  Experimental Cell Research, 1997
• Processing of iduronate 2-sulphatase in human fibroblasts
  Biochemical Journal, 1995
• Mucopolysaccharidosis type II (Hunter disease): Identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients
  Human Mutation, 1995
• Sequence of the Human Iduronate 2-Sulfatase (IDS) Gene
  Genomics, 1993
• Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene
  Human Mutation, 1993
• Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene
  Human Molecular Genetics, 1993
• Mutation R468W of the iduronate-2-sulfatase gene in mild Hunter syndrome (mucopolysaccharidosis type II) confirmed by in vitro mutagenesis and expression
  Human Molecular Genetics, 1992
• Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.
  Proceedings of the National Academy of Sciences, 1990
• Hunter syndrome: presence of material cross-reacting with antibodies against iduronate sulfatase
  Human Genetics, 1987