A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease
Author:
Affiliation:
1. Institut de Bioquímica Clínica; C/Mejía Lequerica, s/n, Edifici Helios III Barcelona 08028 Spain
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005570410851/fullpdf
Reference3 articles.
1. Hunter disease in the Spanish population: molecular analysis in 31 families;Gort;J Inher Metab Dis,1998
2. Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome;Li;Hum Mutat,1995
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1. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution;J INHERIT METAB DIS;2010
2. Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution;Journal of Inherited Metabolic Disease;2010-01-06
3. Mucopolysaccharidosis type II: an update on mutation spectrum;Acta Paediatrica;2007-03-23
4. Mucopolysaccharidosis type II - genotype/phenotype aspects;Acta Paediatrica;2007-01-02
5. Further cases of “neighbor” mutations in mucopolysaccharidosis type II;American Journal of Medical Genetics Part A;2006
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