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
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase.
Demydchuk M et al.
Nature Communications, 2017
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
Saito S et al.
Plos One, 2016
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
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II).
Chang JH et al.
Human Genetics, 2005
Mucopolysaccharidosis type II: identification of six novel mutations in Italian patients.
Villani GR et al.
Human Mutation, 1997
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
Rathmann M et al.
American Journal of Human Genetics, 1996
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
Sukegawa K et al.
Human Mutation, 1995
Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome.
Li P et al.
Human Mutation, 1995
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
Popowska E et al.
Human Mutation, 1995
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
Hopwood JJ et al.
Human Mutation, 1993
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis].
Balzano N et al.
La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 0
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