Associated Papers
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.
Zanetti A et al.
Human Genomics, 2024
39617925 (PubMed )
Supplement: 40246_2024_701_MOESM1_ESM.xlsx › TableS3_UniquePointVariants
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.
Sukegawa-Hayasaka K et al.
Journal of Inherited Metabolic Disease, 2006
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus.
Tomatsu S et al.
Human Mutation, 2004
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
Parkinson EJ et al.
Molecular Genetics and Metabolism, 2004
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.
Ricci V et al.
American Journal of Medical Genetics. Part A, 2003
Uptake of recombinant iduronate-2-sulfatase into neuronal and glial cells in vitro.
Daniele A et al.
Biochimica Et Biophysica Acta, 2002
Mucopolysaccharidosis type II--genotype/phenotype aspects.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 2002
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
Bonuccelli G et al.
Biochimica Et Biophysica Acta, 2001
Expression of five iduronate-2-sulfatase site-directed mutations.
Villani GR et al.
Biochimica Et Biophysica Acta, 2000
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R et al.
Clinical Genetics, 1998
COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.
Millat G et al.
Biochimica Et Biophysica Acta, 1998
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