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
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton BK et al.
International Journal of Neonatal Screening, 2020
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
Zhang H et al.
Plos One, 2011
Mucopolysaccharidosis type II: an update on mutation spectrum.
Froissart R et al.
Acta Paediatrica (oslo, Norway : 1992), 2007
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).
Li P et al.
Journal of Medical Genetics, 1999
Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene.
Li P et al.
Biochemistry and Molecular Biology International, 1995
Newborn screening for mucopolysaccharidosis type II: Lessons learned.
Burton BK et al.
Molecular Genetics and Metabolism, 0
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