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
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.
Alkhzouz C et al.
Jimd Reports, 2017
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Osteoarthropathy in mucopolysaccharidosis type II.
Nascu I et al.
Clujul Medical (1957), 2013
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.
Lualdi S et al.
Human Mutation, 2010
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.
Lualdi S et al.
Biochimica Et Biophysica Acta, 2006
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