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
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II).
Semyachkina AN et al.
Bmc Medical Genomics, 2021
Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.
Marazza A et al.
Dna and Cell Biology, 2020
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.
Brusius-Facchin AC et al.
Molecular Genetics and Metabolism, 2014
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.
Froissart R et al.
Clinical Genetics, 1998
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