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
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Ngiwsara L et al.
Experimental and Therapeutic Medicine, 2017
Decreasing activity and altered protein processing of human iduronate-2-sulfatase mutations demonstrated by expression in COS7 cells.
Charoenwattanasatien R et al.
Biochemical Genetics, 2012
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
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