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
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
Josahkian JA et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2021
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
Lin HY et al.
International Journal of Molecular Sciences, 2019
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
28593992 (PubMed )
Supplement: ncomms15786-s1.pdf
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
Further cases of "neighbor" mutations in mucopolysaccharidosis type II.
Schwartz IV et al.
American Journal of Medical Genetics. Part A, 2006
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
Lin SP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
Chang JH et al.
Human Genetics, 2005
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