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 characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.
Zhong L et al.
Clinical Genetics, 2023
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
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.
Zhang W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Chistiakov DA et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2014
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
Chang JH et al.
Human Genetics, 2005
Molecular analysis in 23 Hunter disease families.
Lissens W et al.
Journal of Inherited Metabolic Disease, 1997
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