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[Mutation analysis in Hunter patients]
G R Villani1, N Balzano, M Grosso
1Dipartimento di Biochimica e Biotecnologie Mediche, Università Federico II di Napoli, Italia.
Summary
Mutations in the iduronate-2-sulfatase gene cause Hunter syndrome (mucopolysaccharidosis type II). Genetic analysis reveals various mutations, including deletions and missense variants, impacting enzyme function and leading to disease.
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