Associated Papers
Long-Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II.
Hao N et al.
Journal of Inherited Metabolic Disease, 2025
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
Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.
Zhang Z et al.
Frontiers in Genetics, 2023
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online.
Balzano N et al.
Human Mutation, 1998
Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation.
Li P et al.
American Journal of Medical Genetics, 1996
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