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
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II.
Sohn YB et al.
Clinical Genetics, 2012
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Li P et al.
Journal of Medical Genetics, 1999
Hunter disease in the Spanish population: molecular analysis in 31 families.
Gort L et al.
Journal of Inherited Metabolic Disease, 1998
Mutations in the iduronate-2-sulfatase gene in 12 Spanish patients with Hunter disease.
Gort L et al.
Human Mutation, 1998
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